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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive <bold><italic>FAM20A</italic></bold> Mutations</title><author><name sortKey="Jaureguiberry, Graciana" sort="Jaureguiberry, Graciana" uniqKey="Jaureguiberry G" first="Graciana" last="Jaureguiberry">Graciana Jaureguiberry</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="De La Dure Molla, Muriel" sort="De La Dure Molla, Muriel" uniqKey="De La Dure Molla M" first="Muriel" last="De La Dure-Molla">Muriel De La Dure-Molla</name><affiliation><nlm:aff id="aff2">Rothschild Dental Hospital Service, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Parry, David" sort="Parry, David" uniqKey="Parry D" first="David" last="Parry">David Parry</name><affiliation><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Quentric, Mickael" sort="Quentric, Mickael" uniqKey="Quentric M" first="Mickael" last="Quentric">Mickael Quentric</name><affiliation><nlm:aff id="aff4">de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Himmerkus, Nina" sort="Himmerkus, Nina" uniqKey="Himmerkus N" first="Nina" last="Himmerkus">Nina Himmerkus</name><affiliation><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Koike, Toshiyasu" sort="Koike, Toshiyasu" uniqKey="Koike T" first="Toshiyasu" last="Koike">Toshiyasu Koike</name><affiliation><nlm:aff id="aff6">Biochemistry, Kobe Pharmaceutical University, Kobe, Japan</nlm:aff></affiliation></author><author><name sortKey="Poulter, James" sort="Poulter, James" uniqKey="Poulter J" first="James" last="Poulter">James Poulter</name><affiliation><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Klootwijk, Enriko" sort="Klootwijk, Enriko" uniqKey="Klootwijk E" first="Enriko" last="Klootwijk">Enriko Klootwijk</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Robinette, Steven L" sort="Robinette, Steven L" uniqKey="Robinette S" first="Steven L." last="Robinette">Steven L. Robinette</name><affiliation><nlm:aff id="aff7">Biomolecular Medicine, Imperial College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Howie, Alexander J" sort="Howie, Alexander J" uniqKey="Howie A" first="Alexander J." last="Howie">Alexander J. Howie</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Patel, Vaksha" sort="Patel, Vaksha" uniqKey="Patel V" first="Vaksha" last="Patel">Vaksha Patel</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Figueres, Marie Lucile" sort="Figueres, Marie Lucile" uniqKey="Figueres M" first="Marie-Lucile" last="Figueres">Marie-Lucile Figueres</name><affiliation><nlm:aff id="aff8">Cordeliers Research Center, Paris-Descartes University, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stanescu, Horia C" sort="Stanescu, Horia C" uniqKey="Stanescu H" first="Horia C." last="Stanescu">Horia C. Stanescu</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Issler, Naomi" sort="Issler, Naomi" uniqKey="Issler N" first="Naomi" last="Issler">Naomi Issler</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Nicholson, Jeremy K" sort="Nicholson, Jeremy K" uniqKey="Nicholson J" first="Jeremy K." last="Nicholson">Jeremy K. Nicholson</name><affiliation><nlm:aff id="aff7">Biomolecular Medicine, Imperial College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Bockenhauer, Detlef" sort="Bockenhauer, Detlef" uniqKey="Bockenhauer D" first="Detlef" last="Bockenhauer">Detlef Bockenhauer</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Laing, Christopher" sort="Laing, Christopher" uniqKey="Laing C" first="Christopher" last="Laing">Christopher Laing</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Walsh, Stephen B" sort="Walsh, Stephen B" uniqKey="Walsh S" first="Stephen B." last="Walsh">Stephen B. Walsh</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Mccredie, David A" sort="Mccredie, David A" uniqKey="Mccredie D" first="David A." last="Mccredie">David A. Mccredie</name><affiliation><nlm:aff id="aff9">Royal Children's Hospital, Melbourne, Vic., Australia</nlm:aff></affiliation></author><author><name sortKey="Povey, Sue" sort="Povey, Sue" uniqKey="Povey S" first="Sue" last="Povey">Sue Povey</name><affiliation><nlm:aff id="aff10">Department of Genetics, Evolution and Environment, UCL, London, UK</nlm:aff></affiliation></author><author><name sortKey="Asselin, Audrey" sort="Asselin, Audrey" uniqKey="Asselin A" first="Audrey" last="Asselin">Audrey Asselin</name><affiliation><nlm:aff id="aff11">INSERM, UMRS 872, University Paris-Diderot, France</nlm:aff></affiliation></author><author><name sortKey="Picard, Arnaud" sort="Picard, Arnaud" uniqKey="Picard A" first="Arnaud" last="Picard">Arnaud Picard</name><affiliation><nlm:aff id="aff11">INSERM, UMRS 872, University Paris-Diderot, France</nlm:aff></affiliation></author><author><name sortKey="Coulomb, Aurore" sort="Coulomb, Aurore" uniqKey="Coulomb A" first="Aurore" last="Coulomb">Aurore Coulomb</name><affiliation><nlm:aff id="aff12">Pathology service, Armand Trousseau Hospital, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Medlar, Alan J" sort="Medlar, Alan J" uniqKey="Medlar A" first="Alan J." last="Medlar">Alan J. Medlar</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Bailleul Forestier, Isabelle" sort="Bailleul Forestier, Isabelle" uniqKey="Bailleul Forestier I" first="Isabelle" last="Bailleul-Forestier">Isabelle Bailleul-Forestier</name><affiliation><nlm:aff id="aff13">Toulouse Hospital, Sabatier University, Toulouse, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation><nlm:aff id="aff14">Department of Genetics, APHP – Robert Debré University Hospital, Paris, and Services de, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name><affiliation><nlm:aff id="aff15">Génétique, CHU de Nantes, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Roussey, Gwenaelle" sort="Roussey, Gwenaelle" uniqKey="Roussey G" first="Gwenaelle" last="Roussey">Gwenaelle Roussey</name><affiliation><nlm:aff id="aff16">Pédiatrie, CHU de Nantes, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Guiol, Julien" sort="Guiol, Julien" uniqKey="Guiol J" first="Julien" last="Guiol">Julien Guiol</name><affiliation><nlm:aff id="aff17">Stomatologie, CHU de Nantes, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:aff id="aff15">Génétique, CHU de Nantes, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Logan, Clare" sort="Logan, Clare" uniqKey="Logan C" first="Clare" last="Logan">Clare Logan</name><affiliation><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Shore, Roger" sort="Shore, Roger" uniqKey="Shore R" first="Roger" last="Shore">Roger Shore</name><affiliation><nlm:aff id="aff18">Leeds Dental Institute, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Johnson, Colin" sort="Johnson, Colin" uniqKey="Johnson C" first="Colin" last="Johnson">Colin Johnson</name><affiliation><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Inglehearn, Christopher" sort="Inglehearn, Christopher" uniqKey="Inglehearn C" first="Christopher" last="Inglehearn">Christopher Inglehearn</name><affiliation><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Al Bahlani, Suhaila" sort="Al Bahlani, Suhaila" uniqKey="Al Bahlani S" first="Suhaila" last="Al-Bahlani">Suhaila Al-Bahlani</name><affiliation><nlm:aff id="aff19">Al-Nahda Hospital, Muscat, Sultanate of Oman</nlm:aff></affiliation></author><author><name sortKey="Schmittbuhl, Matthieu" sort="Schmittbuhl, Matthieu" uniqKey="Schmittbuhl M" first="Matthieu" last="Schmittbuhl">Matthieu Schmittbuhl</name><affiliation><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff></affiliation></author><author><name sortKey="Clauss, Francois" sort="Clauss, Francois" uniqKey="Clauss F" first="François" last="Clauss">François Clauss</name><affiliation><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff></affiliation></author><author><name sortKey="Huckert, Mathilde" sort="Huckert, Mathilde" uniqKey="Huckert M" first="Mathilde" last="Huckert">Mathilde Huckert</name><affiliation><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff></affiliation></author><author><name sortKey="Laugel, Virginie" sort="Laugel, Virginie" uniqKey="Laugel V" first="Virginie" last="Laugel">Virginie Laugel</name><affiliation><nlm:aff id="aff21">IGBMC, INSERM, U964, Illkirch, Hôpital Emile Muller, Mulhouse, France</nlm:aff></affiliation></author><author><name sortKey="Ginglinger, Emmanuelle" sort="Ginglinger, Emmanuelle" uniqKey="Ginglinger E" first="Emmanuelle" last="Ginglinger">Emmanuelle Ginglinger</name><affiliation><nlm:aff id="aff22">Service de Génétique, Hôpital Emile Muller, Mulhouse, France</nlm:aff></affiliation></author><author><name sortKey="Pajarola, Sandra" sort="Pajarola, Sandra" uniqKey="Pajarola S" first="Sandra" last="Pajarola">Sandra Pajarola</name><affiliation><nlm:aff id="aff23">Medical Genetics, University of Zurich, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Sparta, Giuseppina" sort="Sparta, Giuseppina" uniqKey="Sparta G" first="Giuseppina" last="Spartà">Giuseppina Spartà</name><affiliation><nlm:aff id="aff24">Nephrology Unit, University Children's Hospital, Zurich, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Bartholdi, Deborah" sort="Bartholdi, Deborah" uniqKey="Bartholdi D" first="Deborah" last="Bartholdi">Deborah Bartholdi</name><affiliation><nlm:aff id="aff23">Medical Genetics, University of Zurich, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation><nlm:aff id="aff23">Medical Genetics, University of Zurich, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Addor, Marie Claude" sort="Addor, Marie Claude" uniqKey="Addor M" first="Marie-Claude" last="Addor">Marie-Claude Addor</name><affiliation><nlm:aff id="aff25">Service de Génétique Médicale, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Yamaguti, Paulo M" sort="Yamaguti, Paulo M" uniqKey="Yamaguti P" first="Paulo M." last="Yamaguti">Paulo M. Yamaguti</name><affiliation><nlm:aff id="aff26">Health Sciences School, University of Brasilia, Brasilia, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Safatle, Heloisa P" sort="Safatle, Heloisa P" uniqKey="Safatle H" first="Heloisa P." last="Safatle">Heloisa P. Safatle</name><affiliation><nlm:aff id="aff27">Department of Medical Genetics, University of Brasilia, Brasilia, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Acevedo, Ana Carolina" sort="Acevedo, Ana Carolina" uniqKey="Acevedo A" first="Ana Carolina" last="Acevedo">Ana Carolina Acevedo</name><affiliation><nlm:aff id="aff26">Health Sciences School, University of Brasilia, Brasilia, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Martelli Junior, Hercilio" sort="Martelli Junior, Hercilio" uniqKey="Martelli Junior H" first="Hercílio" last="Martelli-Júnior">Hercílio Martelli-Júnior</name><affiliation><nlm:aff id="aff28">State University of Montes Claros, Minas Gerais, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Dos Santos Netos, Pedro E" sort="Dos Santos Netos, Pedro E" uniqKey="Dos Santos Netos P" first="Pedro E." last="Dos Santos Netos">Pedro E. Dos Santos Netos</name><affiliation><nlm:aff id="aff28">State University of Montes Claros, Minas Gerais, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Coletta, Ricardo D" sort="Coletta, Ricardo D" uniqKey="Coletta R" first="Ricardo D." last="Coletta">Ricardo D. Coletta</name><affiliation><nlm:aff id="aff29">Dental School, State University of Campinas, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Gruessel, Sandra" sort="Gruessel, Sandra" uniqKey="Gruessel S" first="Sandra" last="Gruessel">Sandra Gruessel</name><affiliation><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Sandmann, Carolin" sort="Sandmann, Carolin" uniqKey="Sandmann C" first="Carolin" last="Sandmann">Carolin Sandmann</name><affiliation><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Ruehmann, Denise" sort="Ruehmann, Denise" uniqKey="Ruehmann D" first="Denise" last="Ruehmann">Denise Ruehmann</name><affiliation><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Langman, Craig B" sort="Langman, Craig B" uniqKey="Langman C" first="Craig B." last="Langman">Craig B. Langman</name><affiliation><nlm:aff id="aff30">Pediatric Nephrology, Northwestern University, Chicago, Ill., Scranton, Pa., USA</nlm:aff></affiliation></author><author><name sortKey="Scheinman, Steven J" sort="Scheinman, Steven J" uniqKey="Scheinman S" first="Steven J." last="Scheinman">Steven J. Scheinman</name><affiliation><nlm:aff id="aff31">The Commonwealth Medical College, Scranton, Pa., USA</nlm:aff></affiliation></author><author><name sortKey="Ozdemir Ozenen, Didem" sort="Ozdemir Ozenen, Didem" uniqKey="Ozdemir Ozenen D" first="Didem" last="Ozdemir-Ozenen">Didem Ozdemir-Ozenen</name><affiliation><nlm:aff id="aff32">Pedodontics, Yeditepe University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Hart, Thomas C" sort="Hart, Thomas C" uniqKey="Hart T" first="Thomas C." last="Hart">Thomas C. Hart</name><affiliation><nlm:aff id="aff33">Periodontics, University of Illinois at Chicago, Chicago, Ill., Md., USA</nlm:aff></affiliation></author><author><name sortKey="Hart, P Suzanne" sort="Hart, P Suzanne" uniqKey="Hart P" first="P. Suzanne" last="Hart">P. Suzanne Hart</name><affiliation><nlm:aff id="aff34">NHGRI, NIH, Bethesda, Md., USA</nlm:aff></affiliation></author><author><name sortKey="Neugebauer, Ute" sort="Neugebauer, Ute" uniqKey="Neugebauer U" first="Ute" last="Neugebauer">Ute Neugebauer</name><affiliation><nlm:aff id="aff35">Internal Medicine D, University of Muenster, Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Schlatter, Eberhard" sort="Schlatter, Eberhard" uniqKey="Schlatter E" first="Eberhard" last="Schlatter">Eberhard Schlatter</name><affiliation><nlm:aff id="aff35">Internal Medicine D, University of Muenster, Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Houillier, Pascal" sort="Houillier, Pascal" uniqKey="Houillier P" first="Pascal" last="Houillier">Pascal Houillier</name><affiliation><nlm:aff id="aff8">Cordeliers Research Center, Paris-Descartes University, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Gahl, William A" sort="Gahl, William A" uniqKey="Gahl W" first="William A." last="Gahl">William A. Gahl</name><affiliation><nlm:aff id="aff34">NHGRI, NIH, Bethesda, Md., USA</nlm:aff></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation><nlm:aff id="aff4">de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Bloch Zupan, Agnes" sort="Bloch Zupan, Agnes" uniqKey="Bloch Zupan A" first="Agnès" last="Bloch-Zupan">Agnès Bloch-Zupan</name><affiliation><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff></affiliation></author><author><name sortKey="Bleich, Markus" sort="Bleich, Markus" uniqKey="Bleich M" first="Markus" last="Bleich">Markus Bleich</name><affiliation><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Kitagawa, Hiroshi" sort="Kitagawa, Hiroshi" uniqKey="Kitagawa H" first="Hiroshi" last="Kitagawa">Hiroshi Kitagawa</name><affiliation><nlm:aff id="aff6">Biochemistry, Kobe Pharmaceutical University, Kobe, Japan</nlm:aff></affiliation></author><author><name sortKey="Unwin, Robert J" sort="Unwin, Robert J" uniqKey="Unwin R" first="Robert J." last="Unwin">Robert J. Unwin</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Mighell, Alan" sort="Mighell, Alan" uniqKey="Mighell A" first="Alan" last="Mighell">Alan Mighell</name><affiliation><nlm:aff id="aff18">Leeds Dental Institute, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Berdal, Ariane" sort="Berdal, Ariane" uniqKey="Berdal A" first="Ariane" last="Berdal">Ariane Berdal</name><affiliation><nlm:aff id="aff11">INSERM, UMRS 872, University Paris-Diderot, France</nlm:aff></affiliation></author><author><name sortKey="Kleta, Robert" sort="Kleta, Robert" uniqKey="Kleta R" first="Robert" last="Kleta">Robert Kleta</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23434854</idno><idno type="pmc">3782194</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782194</idno><idno type="RBID">PMC:3782194</idno><idno type="doi">10.1159/000349989</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002787</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002787</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive <bold><italic>FAM20A</italic></bold> Mutations</title><author><name sortKey="Jaureguiberry, Graciana" sort="Jaureguiberry, Graciana" uniqKey="Jaureguiberry G" first="Graciana" last="Jaureguiberry">Graciana Jaureguiberry</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="De La Dure Molla, Muriel" sort="De La Dure Molla, Muriel" uniqKey="De La Dure Molla M" first="Muriel" last="De La Dure-Molla">Muriel De La Dure-Molla</name><affiliation><nlm:aff id="aff2">Rothschild Dental Hospital Service, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Parry, David" sort="Parry, David" uniqKey="Parry D" first="David" last="Parry">David Parry</name><affiliation><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Quentric, Mickael" sort="Quentric, Mickael" uniqKey="Quentric M" first="Mickael" last="Quentric">Mickael Quentric</name><affiliation><nlm:aff id="aff4">de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Himmerkus, Nina" sort="Himmerkus, Nina" uniqKey="Himmerkus N" first="Nina" last="Himmerkus">Nina Himmerkus</name><affiliation><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Koike, Toshiyasu" sort="Koike, Toshiyasu" uniqKey="Koike T" first="Toshiyasu" last="Koike">Toshiyasu Koike</name><affiliation><nlm:aff id="aff6">Biochemistry, Kobe Pharmaceutical University, Kobe, Japan</nlm:aff></affiliation></author><author><name sortKey="Poulter, James" sort="Poulter, James" uniqKey="Poulter J" first="James" last="Poulter">James Poulter</name><affiliation><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Klootwijk, Enriko" sort="Klootwijk, Enriko" uniqKey="Klootwijk E" first="Enriko" last="Klootwijk">Enriko Klootwijk</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Robinette, Steven L" sort="Robinette, Steven L" uniqKey="Robinette S" first="Steven L." last="Robinette">Steven L. Robinette</name><affiliation><nlm:aff id="aff7">Biomolecular Medicine, Imperial College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Howie, Alexander J" sort="Howie, Alexander J" uniqKey="Howie A" first="Alexander J." last="Howie">Alexander J. Howie</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Patel, Vaksha" sort="Patel, Vaksha" uniqKey="Patel V" first="Vaksha" last="Patel">Vaksha Patel</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Figueres, Marie Lucile" sort="Figueres, Marie Lucile" uniqKey="Figueres M" first="Marie-Lucile" last="Figueres">Marie-Lucile Figueres</name><affiliation><nlm:aff id="aff8">Cordeliers Research Center, Paris-Descartes University, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stanescu, Horia C" sort="Stanescu, Horia C" uniqKey="Stanescu H" first="Horia C." last="Stanescu">Horia C. Stanescu</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Issler, Naomi" sort="Issler, Naomi" uniqKey="Issler N" first="Naomi" last="Issler">Naomi Issler</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Nicholson, Jeremy K" sort="Nicholson, Jeremy K" uniqKey="Nicholson J" first="Jeremy K." last="Nicholson">Jeremy K. Nicholson</name><affiliation><nlm:aff id="aff7">Biomolecular Medicine, Imperial College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Bockenhauer, Detlef" sort="Bockenhauer, Detlef" uniqKey="Bockenhauer D" first="Detlef" last="Bockenhauer">Detlef Bockenhauer</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Laing, Christopher" sort="Laing, Christopher" uniqKey="Laing C" first="Christopher" last="Laing">Christopher Laing</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Walsh, Stephen B" sort="Walsh, Stephen B" uniqKey="Walsh S" first="Stephen B." last="Walsh">Stephen B. Walsh</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Mccredie, David A" sort="Mccredie, David A" uniqKey="Mccredie D" first="David A." last="Mccredie">David A. Mccredie</name><affiliation><nlm:aff id="aff9">Royal Children's Hospital, Melbourne, Vic., Australia</nlm:aff></affiliation></author><author><name sortKey="Povey, Sue" sort="Povey, Sue" uniqKey="Povey S" first="Sue" last="Povey">Sue Povey</name><affiliation><nlm:aff id="aff10">Department of Genetics, Evolution and Environment, UCL, London, UK</nlm:aff></affiliation></author><author><name sortKey="Asselin, Audrey" sort="Asselin, Audrey" uniqKey="Asselin A" first="Audrey" last="Asselin">Audrey Asselin</name><affiliation><nlm:aff id="aff11">INSERM, UMRS 872, University Paris-Diderot, France</nlm:aff></affiliation></author><author><name sortKey="Picard, Arnaud" sort="Picard, Arnaud" uniqKey="Picard A" first="Arnaud" last="Picard">Arnaud Picard</name><affiliation><nlm:aff id="aff11">INSERM, UMRS 872, University Paris-Diderot, France</nlm:aff></affiliation></author><author><name sortKey="Coulomb, Aurore" sort="Coulomb, Aurore" uniqKey="Coulomb A" first="Aurore" last="Coulomb">Aurore Coulomb</name><affiliation><nlm:aff id="aff12">Pathology service, Armand Trousseau Hospital, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Medlar, Alan J" sort="Medlar, Alan J" uniqKey="Medlar A" first="Alan J." last="Medlar">Alan J. Medlar</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Bailleul Forestier, Isabelle" sort="Bailleul Forestier, Isabelle" uniqKey="Bailleul Forestier I" first="Isabelle" last="Bailleul-Forestier">Isabelle Bailleul-Forestier</name><affiliation><nlm:aff id="aff13">Toulouse Hospital, Sabatier University, Toulouse, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation><nlm:aff id="aff14">Department of Genetics, APHP – Robert Debré University Hospital, Paris, and Services de, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name><affiliation><nlm:aff id="aff15">Génétique, CHU de Nantes, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Roussey, Gwenaelle" sort="Roussey, Gwenaelle" uniqKey="Roussey G" first="Gwenaelle" last="Roussey">Gwenaelle Roussey</name><affiliation><nlm:aff id="aff16">Pédiatrie, CHU de Nantes, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Guiol, Julien" sort="Guiol, Julien" uniqKey="Guiol J" first="Julien" last="Guiol">Julien Guiol</name><affiliation><nlm:aff id="aff17">Stomatologie, CHU de Nantes, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:aff id="aff15">Génétique, CHU de Nantes, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Logan, Clare" sort="Logan, Clare" uniqKey="Logan C" first="Clare" last="Logan">Clare Logan</name><affiliation><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Shore, Roger" sort="Shore, Roger" uniqKey="Shore R" first="Roger" last="Shore">Roger Shore</name><affiliation><nlm:aff id="aff18">Leeds Dental Institute, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Johnson, Colin" sort="Johnson, Colin" uniqKey="Johnson C" first="Colin" last="Johnson">Colin Johnson</name><affiliation><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Inglehearn, Christopher" sort="Inglehearn, Christopher" uniqKey="Inglehearn C" first="Christopher" last="Inglehearn">Christopher Inglehearn</name><affiliation><nlm:aff id="aff3">Molecular Medicine, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Al Bahlani, Suhaila" sort="Al Bahlani, Suhaila" uniqKey="Al Bahlani S" first="Suhaila" last="Al-Bahlani">Suhaila Al-Bahlani</name><affiliation><nlm:aff id="aff19">Al-Nahda Hospital, Muscat, Sultanate of Oman</nlm:aff></affiliation></author><author><name sortKey="Schmittbuhl, Matthieu" sort="Schmittbuhl, Matthieu" uniqKey="Schmittbuhl M" first="Matthieu" last="Schmittbuhl">Matthieu Schmittbuhl</name><affiliation><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff></affiliation></author><author><name sortKey="Clauss, Francois" sort="Clauss, Francois" uniqKey="Clauss F" first="François" last="Clauss">François Clauss</name><affiliation><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff></affiliation></author><author><name sortKey="Huckert, Mathilde" sort="Huckert, Mathilde" uniqKey="Huckert M" first="Mathilde" last="Huckert">Mathilde Huckert</name><affiliation><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff></affiliation></author><author><name sortKey="Laugel, Virginie" sort="Laugel, Virginie" uniqKey="Laugel V" first="Virginie" last="Laugel">Virginie Laugel</name><affiliation><nlm:aff id="aff21">IGBMC, INSERM, U964, Illkirch, Hôpital Emile Muller, Mulhouse, France</nlm:aff></affiliation></author><author><name sortKey="Ginglinger, Emmanuelle" sort="Ginglinger, Emmanuelle" uniqKey="Ginglinger E" first="Emmanuelle" last="Ginglinger">Emmanuelle Ginglinger</name><affiliation><nlm:aff id="aff22">Service de Génétique, Hôpital Emile Muller, Mulhouse, France</nlm:aff></affiliation></author><author><name sortKey="Pajarola, Sandra" sort="Pajarola, Sandra" uniqKey="Pajarola S" first="Sandra" last="Pajarola">Sandra Pajarola</name><affiliation><nlm:aff id="aff23">Medical Genetics, University of Zurich, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Sparta, Giuseppina" sort="Sparta, Giuseppina" uniqKey="Sparta G" first="Giuseppina" last="Spartà">Giuseppina Spartà</name><affiliation><nlm:aff id="aff24">Nephrology Unit, University Children's Hospital, Zurich, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Bartholdi, Deborah" sort="Bartholdi, Deborah" uniqKey="Bartholdi D" first="Deborah" last="Bartholdi">Deborah Bartholdi</name><affiliation><nlm:aff id="aff23">Medical Genetics, University of Zurich, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation><nlm:aff id="aff23">Medical Genetics, University of Zurich, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Addor, Marie Claude" sort="Addor, Marie Claude" uniqKey="Addor M" first="Marie-Claude" last="Addor">Marie-Claude Addor</name><affiliation><nlm:aff id="aff25">Service de Génétique Médicale, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Yamaguti, Paulo M" sort="Yamaguti, Paulo M" uniqKey="Yamaguti P" first="Paulo M." last="Yamaguti">Paulo M. Yamaguti</name><affiliation><nlm:aff id="aff26">Health Sciences School, University of Brasilia, Brasilia, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Safatle, Heloisa P" sort="Safatle, Heloisa P" uniqKey="Safatle H" first="Heloisa P." last="Safatle">Heloisa P. Safatle</name><affiliation><nlm:aff id="aff27">Department of Medical Genetics, University of Brasilia, Brasilia, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Acevedo, Ana Carolina" sort="Acevedo, Ana Carolina" uniqKey="Acevedo A" first="Ana Carolina" last="Acevedo">Ana Carolina Acevedo</name><affiliation><nlm:aff id="aff26">Health Sciences School, University of Brasilia, Brasilia, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Martelli Junior, Hercilio" sort="Martelli Junior, Hercilio" uniqKey="Martelli Junior H" first="Hercílio" last="Martelli-Júnior">Hercílio Martelli-Júnior</name><affiliation><nlm:aff id="aff28">State University of Montes Claros, Minas Gerais, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Dos Santos Netos, Pedro E" sort="Dos Santos Netos, Pedro E" uniqKey="Dos Santos Netos P" first="Pedro E." last="Dos Santos Netos">Pedro E. Dos Santos Netos</name><affiliation><nlm:aff id="aff28">State University of Montes Claros, Minas Gerais, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Coletta, Ricardo D" sort="Coletta, Ricardo D" uniqKey="Coletta R" first="Ricardo D." last="Coletta">Ricardo D. Coletta</name><affiliation><nlm:aff id="aff29">Dental School, State University of Campinas, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Gruessel, Sandra" sort="Gruessel, Sandra" uniqKey="Gruessel S" first="Sandra" last="Gruessel">Sandra Gruessel</name><affiliation><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Sandmann, Carolin" sort="Sandmann, Carolin" uniqKey="Sandmann C" first="Carolin" last="Sandmann">Carolin Sandmann</name><affiliation><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Ruehmann, Denise" sort="Ruehmann, Denise" uniqKey="Ruehmann D" first="Denise" last="Ruehmann">Denise Ruehmann</name><affiliation><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Langman, Craig B" sort="Langman, Craig B" uniqKey="Langman C" first="Craig B." last="Langman">Craig B. Langman</name><affiliation><nlm:aff id="aff30">Pediatric Nephrology, Northwestern University, Chicago, Ill., Scranton, Pa., USA</nlm:aff></affiliation></author><author><name sortKey="Scheinman, Steven J" sort="Scheinman, Steven J" uniqKey="Scheinman S" first="Steven J." last="Scheinman">Steven J. Scheinman</name><affiliation><nlm:aff id="aff31">The Commonwealth Medical College, Scranton, Pa., USA</nlm:aff></affiliation></author><author><name sortKey="Ozdemir Ozenen, Didem" sort="Ozdemir Ozenen, Didem" uniqKey="Ozdemir Ozenen D" first="Didem" last="Ozdemir-Ozenen">Didem Ozdemir-Ozenen</name><affiliation><nlm:aff id="aff32">Pedodontics, Yeditepe University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Hart, Thomas C" sort="Hart, Thomas C" uniqKey="Hart T" first="Thomas C." last="Hart">Thomas C. Hart</name><affiliation><nlm:aff id="aff33">Periodontics, University of Illinois at Chicago, Chicago, Ill., Md., USA</nlm:aff></affiliation></author><author><name sortKey="Hart, P Suzanne" sort="Hart, P Suzanne" uniqKey="Hart P" first="P. Suzanne" last="Hart">P. Suzanne Hart</name><affiliation><nlm:aff id="aff34">NHGRI, NIH, Bethesda, Md., USA</nlm:aff></affiliation></author><author><name sortKey="Neugebauer, Ute" sort="Neugebauer, Ute" uniqKey="Neugebauer U" first="Ute" last="Neugebauer">Ute Neugebauer</name><affiliation><nlm:aff id="aff35">Internal Medicine D, University of Muenster, Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Schlatter, Eberhard" sort="Schlatter, Eberhard" uniqKey="Schlatter E" first="Eberhard" last="Schlatter">Eberhard Schlatter</name><affiliation><nlm:aff id="aff35">Internal Medicine D, University of Muenster, Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Houillier, Pascal" sort="Houillier, Pascal" uniqKey="Houillier P" first="Pascal" last="Houillier">Pascal Houillier</name><affiliation><nlm:aff id="aff8">Cordeliers Research Center, Paris-Descartes University, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Gahl, William A" sort="Gahl, William A" uniqKey="Gahl W" first="William A." last="Gahl">William A. Gahl</name><affiliation><nlm:aff id="aff34">NHGRI, NIH, Bethesda, Md., USA</nlm:aff></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation><nlm:aff id="aff4">de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Bloch Zupan, Agnes" sort="Bloch Zupan, Agnes" uniqKey="Bloch Zupan A" first="Agnès" last="Bloch-Zupan">Agnès Bloch-Zupan</name><affiliation><nlm:aff id="aff20">University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</nlm:aff></affiliation></author><author><name sortKey="Bleich, Markus" sort="Bleich, Markus" uniqKey="Bleich M" first="Markus" last="Bleich">Markus Bleich</name><affiliation><nlm:aff id="aff5">Physiology, University of Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Kitagawa, Hiroshi" sort="Kitagawa, Hiroshi" uniqKey="Kitagawa H" first="Hiroshi" last="Kitagawa">Hiroshi Kitagawa</name><affiliation><nlm:aff id="aff6">Biochemistry, Kobe Pharmaceutical University, Kobe, Japan</nlm:aff></affiliation></author><author><name sortKey="Unwin, Robert J" sort="Unwin, Robert J" uniqKey="Unwin R" first="Robert J." last="Unwin">Robert J. Unwin</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Mighell, Alan" sort="Mighell, Alan" uniqKey="Mighell A" first="Alan" last="Mighell">Alan Mighell</name><affiliation><nlm:aff id="aff18">Leeds Dental Institute, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Berdal, Ariane" sort="Berdal, Ariane" uniqKey="Berdal A" first="Ariane" last="Berdal">Ariane Berdal</name><affiliation><nlm:aff id="aff11">INSERM, UMRS 872, University Paris-Diderot, France</nlm:aff></affiliation></author><author><name sortKey="Kleta, Robert" sort="Kleta, Robert" uniqKey="Kleta R" first="Robert" last="Kleta">Robert Kleta</name><affiliation><nlm:aff id="aff1">Centre for Nephrology, University College London, London, UK</nlm:aff></affiliation></author></analytic><series><title level="j">Nephron. Physiology</title><idno type="ISSN">1660-8151</idno><idno type="eISSN">1660-2137</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background/Aims</title><p>Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood.</p></sec><sec><title>Methods</title><p>We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing.</p></sec><sec><title>Results</title><p>All patients had bi-allelic <italic>FAM20A</italic> mutations segregating with the disease; 20 different mutations were identified.</p></sec><sec><title>Conclusions</title><p>This au-tosomal recessive disorder, also known as enamel renal syndrome, of <italic>FAM20A</italic> causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic <italic>FAM20A</italic> mutations will eventually show nephrocalcinosis.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Evan, Ap" uniqKey="Evan A">AP Evan</name></author><author><name sortKey="Unwin, Rj" uniqKey="Unwin R">RJ Unwin</name></author><author><name sortKey="Williams, Jc" uniqKey="Williams J">JC Williams</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kleta, R" uniqKey="Kleta R">R Kleta</name></author><author><name sortKey="Bockenhauer, D" uniqKey="Bockenhauer D">D Bockenhauer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Vivante, A" uniqKey="Vivante A">A Vivante</name></author><author><name sortKey="Lotan, D" uniqKey="Lotan D">D Lotan</name></author><author><name sortKey="Pode Shakked, N" uniqKey="Pode Shakked N">N Pode-Shakked</name></author><author><name sortKey="Landau, D" uniqKey="Landau D">D Landau</name></author><author><name sortKey="Svec, P" uniqKey="Svec P">P Svec</name></author><author><name sortKey="Nampoothiri, S" uniqKey="Nampoothiri S">S Nampoothiri</name></author><author><name sortKey="Verma, I" uniqKey="Verma I">I Verma</name></author><author><name sortKey="Abu Libdeh, A" uniqKey="Abu Libdeh A">A Abu-Libdeh</name></author><author><name sortKey="Bockenhauer, D" uniqKey="Bockenhauer D">D Bockenhauer</name></author><author><name sortKey="Dekel, B" uniqKey="Dekel B">B Dekel</name></author><author><name sortKey="Anikster, Y" uniqKey="Anikster Y">Y Anikster</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bockenhauer, D" uniqKey="Bockenhauer D">D Bockenhauer</name></author><author><name sortKey="Feather, S" uniqKey="Feather S">S Feather</name></author><author><name sortKey="Stanescu, Hc" uniqKey="Stanescu H">HC Stanescu</name></author><author><name sortKey="Bandulik, S" uniqKey="Bandulik S">S 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uniqKey="Carr I">IM Carr</name></author><author><name sortKey="Sheridan, E" uniqKey="Sheridan E">E Sheridan</name></author><author><name sortKey="Hayward, Be" uniqKey="Hayward B">BE Hayward</name></author><author><name sortKey="Markham, Af" uniqKey="Markham A">AF Markham</name></author><author><name sortKey="Bonthron, Dt" uniqKey="Bonthron D">DT Bonthron</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Li, H" uniqKey="Li H">H Li</name></author><author><name sortKey="Handsaker, B" uniqKey="Handsaker B">B Handsaker</name></author><author><name sortKey="Wysoker, A" uniqKey="Wysoker A">A Wysoker</name></author><author><name sortKey="Fennell, T" uniqKey="Fennell T">T Fennell</name></author><author><name sortKey="Ruan, J" uniqKey="Ruan J">J Ruan</name></author><author><name sortKey="Homer, N" uniqKey="Homer N">N Homer</name></author><author><name sortKey="Marth, G" uniqKey="Marth G">G Marth</name></author><author><name sortKey="Abecasis, G" 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Nephron Physiol</journal-id><journal-id journal-id-type="iso-abbrev">Nephron Physiol</journal-id><journal-id journal-id-type="publisher-id">NEP</journal-id><journal-title-group><journal-title>Nephron. Physiology</journal-title></journal-title-group><issn pub-type="ppub">1660-8151</issn><issn pub-type="epub">1660-2137</issn><publisher><publisher-name>S. Karger AG</publisher-name><publisher-loc>Allschwilerstrasse 10, P.O. Box · Postfach · Case postale, CH–4009, Basel, Switzerland · Schweiz · Suisse, Phone: +41 61 306 11 11, Fax: +41 61 306 12 34, karger@karger.ch</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">23434854</article-id><article-id pub-id-type="pmc">3782194</article-id><article-id pub-id-type="doi">10.1159/000349989</article-id><article-id pub-id-type="publisher-id">nep-0122-0001</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Paper</subject></subj-group></article-categories><title-group><article-title>Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive <bold><italic>FAM20A</italic></bold> Mutations</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Jaureguiberry</surname><given-names>Graciana</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>De la Dure-Molla</surname><given-names>Muriel</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Parry</surname><given-names>David</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Quentric</surname><given-names>Mickael</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Himmerkus</surname><given-names>Nina</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Koike</surname><given-names>Toshiyasu</given-names></name><xref ref-type="aff" rid="aff6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Poulter</surname><given-names>James</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Klootwijk</surname><given-names>Enriko</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Robinette</surname><given-names>Steven L.</given-names></name><xref ref-type="aff" rid="aff7"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Howie</surname><given-names>Alexander J.</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Patel</surname><given-names>Vaksha</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Figueres</surname><given-names>Marie-Lucile</given-names></name><xref ref-type="aff" rid="aff8"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Stanescu</surname><given-names>Horia C.</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Issler</surname><given-names>Naomi</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nicholson</surname><given-names>Jeremy K.</given-names></name><xref ref-type="aff" rid="aff7"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bockenhauer</surname><given-names>Detlef</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Laing</surname><given-names>Christopher</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Walsh</surname><given-names>Stephen B.</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>McCredie</surname><given-names>David A.</given-names></name><xref ref-type="aff" rid="aff9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Povey</surname><given-names>Sue</given-names></name><xref ref-type="aff" rid="aff10"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Asselin</surname><given-names>Audrey</given-names></name><xref ref-type="aff" rid="aff11"><sup>11</sup></xref></contrib><contrib contrib-type="author"><name><surname>Picard</surname><given-names>Arnaud</given-names></name><xref ref-type="aff" rid="aff11"><sup>11</sup></xref></contrib><contrib contrib-type="author"><name><surname>Coulomb</surname><given-names>Aurore</given-names></name><xref ref-type="aff" rid="aff12"><sup>12</sup></xref></contrib><contrib contrib-type="author"><name><surname>Medlar</surname><given-names>Alan J.</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bailleul-Forestier</surname><given-names>Isabelle</given-names></name><xref ref-type="aff" rid="aff13"><sup>13</sup></xref></contrib><contrib contrib-type="author"><name><surname>Verloes</surname><given-names>Alain</given-names></name><xref ref-type="aff" rid="aff14"><sup>14</sup></xref></contrib><contrib contrib-type="author"><name><surname>Le Caignec</surname><given-names>Cedric</given-names></name><xref ref-type="aff" rid="aff15"><sup>15</sup></xref></contrib><contrib contrib-type="author"><name><surname>Roussey</surname><given-names>Gwenaelle</given-names></name><xref ref-type="aff" rid="aff16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Guiol</surname><given-names>Julien</given-names></name><xref ref-type="aff" rid="aff17"><sup>17</sup></xref></contrib><contrib contrib-type="author"><name><surname>Isidor</surname><given-names>Bertrand</given-names></name><xref ref-type="aff" rid="aff15"><sup>15</sup></xref></contrib><contrib contrib-type="author"><name><surname>Logan</surname><given-names>Clare</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Shore</surname><given-names>Roger</given-names></name><xref ref-type="aff" rid="aff18"><sup>18</sup></xref></contrib><contrib contrib-type="author"><name><surname>Johnson</surname><given-names>Colin</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Inglehearn</surname><given-names>Christopher</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Al-Bahlani</surname><given-names>Suhaila</given-names></name><xref ref-type="aff" rid="aff19"><sup>19</sup></xref></contrib><contrib contrib-type="author"><name><surname>Schmittbuhl</surname><given-names>Matthieu</given-names></name><xref ref-type="aff" rid="aff20"><sup>20</sup></xref></contrib><contrib contrib-type="author"><name><surname>Clauss</surname><given-names>François</given-names></name><xref ref-type="aff" rid="aff20"><sup>20</sup></xref></contrib><contrib contrib-type="author"><name><surname>Huckert</surname><given-names>Mathilde</given-names></name><xref ref-type="aff" rid="aff20"><sup>20</sup></xref></contrib><contrib contrib-type="author"><name><surname>Laugel</surname><given-names>Virginie</given-names></name><xref ref-type="aff" rid="aff21"><sup>21</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ginglinger</surname><given-names>Emmanuelle</given-names></name><xref ref-type="aff" rid="aff22"><sup>22</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pajarola</surname><given-names>Sandra</given-names></name><xref ref-type="aff" rid="aff23"><sup>23</sup></xref></contrib><contrib contrib-type="author"><name><surname>Spartà</surname><given-names>Giuseppina</given-names></name><xref ref-type="aff" rid="aff24"><sup>24</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bartholdi</surname><given-names>Deborah</given-names></name><xref ref-type="aff" rid="aff23"><sup>23</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rauch</surname><given-names>Anita</given-names></name><xref ref-type="aff" rid="aff23"><sup>23</sup></xref></contrib><contrib contrib-type="author"><name><surname>Addor</surname><given-names>Marie-Claude</given-names></name><xref ref-type="aff" rid="aff25"><sup>25</sup></xref></contrib><contrib contrib-type="author"><name><surname>Yamaguti</surname><given-names>Paulo M.</given-names></name><xref ref-type="aff" rid="aff26"><sup>26</sup></xref></contrib><contrib contrib-type="author"><name><surname>Safatle</surname><given-names>Heloisa P.</given-names></name><xref ref-type="aff" rid="aff27"><sup>27</sup></xref></contrib><contrib contrib-type="author"><name><surname>Acevedo</surname><given-names>Ana Carolina</given-names></name><xref ref-type="aff" rid="aff26"><sup>26</sup></xref></contrib><contrib contrib-type="author"><name><surname>Martelli-Júnior</surname><given-names>Hercílio</given-names></name><xref ref-type="aff" rid="aff28"><sup>28</sup></xref></contrib><contrib contrib-type="author"><name><surname>dos Santos Netos</surname><given-names>Pedro E.</given-names></name><xref ref-type="aff" rid="aff28"><sup>28</sup></xref></contrib><contrib contrib-type="author"><name><surname>Coletta</surname><given-names>Ricardo D.</given-names></name><xref ref-type="aff" rid="aff29"><sup>29</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gruessel</surname><given-names>Sandra</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sandmann</surname><given-names>Carolin</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ruehmann</surname><given-names>Denise</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Langman</surname><given-names>Craig B.</given-names></name><xref ref-type="aff" rid="aff30"><sup>30</sup></xref></contrib><contrib contrib-type="author"><name><surname>Scheinman</surname><given-names>Steven J.</given-names></name><xref ref-type="aff" rid="aff31"><sup>31</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ozdemir-Ozenen</surname><given-names>Didem</given-names></name><xref ref-type="aff" rid="aff32"><sup>32</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hart</surname><given-names>Thomas C.</given-names></name><xref ref-type="aff" rid="aff33"><sup>33</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hart</surname><given-names>P. Suzanne</given-names></name><xref ref-type="aff" rid="aff34"><sup>34</sup></xref></contrib><contrib contrib-type="author"><name><surname>Neugebauer</surname><given-names>Ute</given-names></name><xref ref-type="aff" rid="aff35"><sup>35</sup></xref></contrib><contrib contrib-type="author"><name><surname>Schlatter</surname><given-names>Eberhard</given-names></name><xref ref-type="aff" rid="aff35"><sup>35</sup></xref></contrib><contrib contrib-type="author"><name><surname>Houillier</surname><given-names>Pascal</given-names></name><xref ref-type="aff" rid="aff8"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gahl</surname><given-names>William A.</given-names></name><xref ref-type="aff" rid="aff34"><sup>34</sup></xref></contrib><contrib contrib-type="author"><name><surname>Vikkula</surname><given-names>Miikka</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bloch-Zupan</surname><given-names>Agnès</given-names></name><xref ref-type="aff" rid="aff20"><sup>20</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bleich</surname><given-names>Markus</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kitagawa</surname><given-names>Hiroshi</given-names></name><xref ref-type="aff" rid="aff6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Unwin</surname><given-names>Robert J.</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mighell</surname><given-names>Alan</given-names></name><xref ref-type="aff" rid="aff18"><sup>18</sup></xref></contrib><contrib contrib-type="author"><name><surname>Berdal</surname><given-names>Ariane</given-names></name><xref ref-type="aff" rid="aff11"><sup>11</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kleta</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="corresp" rid="cor1">*</xref></contrib></contrib-group><aff id="aff1"><sup>1</sup>Centre for Nephrology, University College London, London, UK</aff><aff id="aff2"><sup>2</sup>Rothschild Dental Hospital Service, Paris, France</aff><aff id="aff3"><sup>3</sup>Molecular Medicine, University of Leeds, Leeds, UK</aff><aff id="aff4"><sup>4</sup>de Duve Institute, Université catholique de Louvain, Brussels, Belgium</aff><aff id="aff5"><sup>5</sup>Physiology, University of Kiel, Kiel, Germany</aff><aff id="aff6"><sup>6</sup>Biochemistry, Kobe Pharmaceutical University, Kobe, Japan</aff><aff id="aff7"><sup>7</sup>Biomolecular Medicine, Imperial College London, London, UK</aff><aff id="aff8"><sup>8</sup>Cordeliers Research Center, Paris-Descartes University, Paris, France</aff><aff id="aff9"><sup>9</sup>Royal Children's Hospital, Melbourne, Vic., Australia</aff><aff id="aff10"><sup>10</sup>Department of Genetics, Evolution and Environment, UCL, London, UK</aff><aff id="aff11"><sup>11</sup>INSERM, UMRS 872, University Paris-Diderot, France</aff><aff id="aff12"><sup>12</sup>Pathology service, Armand Trousseau Hospital, Paris, France</aff><aff id="aff13"><sup>13</sup>Toulouse Hospital, Sabatier University, Toulouse, Nantes, France</aff><aff id="aff14"><sup>14</sup>Department of Genetics, APHP – Robert Debré University Hospital, Paris, and Services de, Nantes, France</aff><aff id="aff15"><sup>15</sup>Génétique, CHU de Nantes, Nantes, France</aff><aff id="aff16"><sup>16</sup>Pédiatrie, CHU de Nantes, Nantes, France</aff><aff id="aff17"><sup>17</sup>Stomatologie, CHU de Nantes, Nantes, France</aff><aff id="aff18"><sup>18</sup>Leeds Dental Institute, University of Leeds, Leeds, UK</aff><aff id="aff19"><sup>19</sup>Al-Nahda Hospital, Muscat, Sultanate of Oman</aff><aff id="aff20"><sup>20</sup>University of Strasbourg, Strasbourg, Hôpital Emile Muller, Mulhouse, France</aff><aff id="aff21"><sup>21</sup>IGBMC, INSERM, U964, Illkirch, Hôpital Emile Muller, Mulhouse, France</aff><aff id="aff22"><sup>22</sup>Service de Génétique, Hôpital Emile Muller, Mulhouse, France</aff><aff id="aff23"><sup>23</sup>Medical Genetics, University of Zurich, Lausanne, Switzerland</aff><aff id="aff24"><sup>24</sup>Nephrology Unit, University Children's Hospital, Zurich, Lausanne, Switzerland</aff><aff id="aff25"><sup>25</sup>Service de Génétique Médicale, Lausanne, Switzerland</aff><aff id="aff26"><sup>26</sup>Health Sciences School, University of Brasilia, Brasilia, São Paulo, Brazil</aff><aff id="aff27"><sup>27</sup>Department of Medical Genetics, University of Brasilia, Brasilia, São Paulo, Brazil</aff><aff id="aff28"><sup>28</sup>State University of Montes Claros, Minas Gerais, São Paulo, Brazil</aff><aff id="aff29"><sup>29</sup>Dental School, State University of Campinas, São Paulo, Brazil</aff><aff id="aff30"><sup>30</sup>Pediatric Nephrology, Northwestern University, Chicago, Ill., Scranton, Pa., USA</aff><aff id="aff31"><sup>31</sup>The Commonwealth Medical College, Scranton, Pa., USA</aff><aff id="aff32"><sup>32</sup>Pedodontics, Yeditepe University, Istanbul, Turkey</aff><aff id="aff33"><sup>33</sup>Periodontics, University of Illinois at Chicago, Chicago, Ill., Md., USA</aff><aff id="aff34"><sup>34</sup>NHGRI, NIH, Bethesda, Md., USA</aff><aff id="aff35"><sup>35</sup>Internal Medicine D, University of Muenster, Muenster, Germany</aff><author-notes><corresp id="cor1">*Robert Kleta, MD, PhD, FASN, FACMG, Centre for Nephrology, University College London, Royal Free Hospital, Rowland Hill Street, London NW3 2PF (UK), E-Mail <email>r.kleta@ucl.ac.uk</email></corresp><fn fn-type="equal"><p>G. Jaureguiberry, M. De la Dure-Molla, D. Parry, M. Quentric, N. Himmerkus, T. Koike, M. Bleich, H. Kitagawa, R.J. Unwin, A. Mighell, A. Berdal, and R. Kleta contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><month>4</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>23</day><month>2</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>23</day><month>2</month><year>2013</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>122</volume><issue>1-2</issue><fpage>1</fpage><lpage>6</lpage><history><date date-type="received"><day>20</day><month>2</month><year>2013</year></date><date date-type="accepted"><day>20</day><month>2</month><year>2013</year></date></history><permissions><copyright-statement>Copyright © 2012 by S. Karger AG, Basel</copyright-statement><copyright-year>2012</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/3.0/"><license-p>This is an Open Access article licensed under the terms of the Creative Commons Attribution 3.0 Unported license (CC BY 3.0) (www.karger.com/OA-license-WT), applicable to the online version of the article only. Users may download, print and share this work on the Internet, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions.</license-p></license></permissions><abstract><sec><title>Background/Aims</title><p>Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood.</p></sec><sec><title>Methods</title><p>We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing.</p></sec><sec><title>Results</title><p>All patients had bi-allelic <italic>FAM20A</italic> mutations segregating with the disease; 20 different mutations were identified.</p></sec><sec><title>Conclusions</title><p>This au-tosomal recessive disorder, also known as enamel renal syndrome, of <italic>FAM20A</italic> causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic <italic>FAM20A</italic> mutations will eventually show nephrocalcinosis.</p></sec></abstract><kwd-group><title>Key Words
</title><kwd>Nephrolithiasis</kwd><kwd>Urolithiasis</kwd><kwd>Amelogenesis imperfecta</kwd><kwd>FAM20B</kwd><kwd>FAM20C
</kwd></kwd-group><counts><fig-count count="1"></fig-count><table-count count="1"></table-count><ref-count count="24"></ref-count><page-count count="6"></page-count></counts></article-meta></front><body><sec id="sec1_1"><title>Introduction</title><p>Nephrocalcinosis (NC), diagnosed by radiographs, CT, or increased echogenicity on ultrasound, represents an important renal complication because it can accompany progressive deterioration of glomerular function or nephrolithiasis [<xref ref-type="bibr" rid="B1">1</xref>]. In some cases, NC provides a clue to an underlying genetic disorder such as hyperoxaluria or distal renal tubular acidosis with or without deafness [<xref ref-type="bibr" rid="B2">2</xref>,<xref ref-type="bibr" rid="B3">3</xref>]. In other cases, NC is a side effect of chronic treatment with various drugs, including loop diuretics and vitamin D. In general, the pathogenesis of NC has not been adequately elucidated, although hypercalciuria appears to be a common finding.</p><p>Often, rare genetic diseases reveal previously unrecognized mechanisms of action regarding physiology, cell biology, and metabolism. Here, we present genetic studies into a rare human disease of NC combined with amelogenesis imperfecta (AI), a disorder of abnormal enamel formation and impaired tooth eruption.</p></sec><sec sec-type="methods" id="sec1_2"><title>Methods</title><p>Patients and families were identified in our rare disease renal tubular or dental/craniofacial reference centers and gave informed consent. This study was approved by the institutional review boards and ethics committees of the various centers. All patients had NC confirmed by either ultrasound, X-ray or CT, and all showed characteristic teeth findings with AI and delayed or missing tooth eruption.</p><p>In short, multipoint parametric linkage analysis utilizing 2,000 highly polymorphic markers (DeCode, Iceland) across the whole genome in 4 informative families as well as homozygosity mapping for another consanguineous family was used to determine the locus linked to this trait, as published before [<xref ref-type="bibr" rid="B4">4</xref>,<xref ref-type="bibr" rid="B5">5</xref>]. Next-generation sequencing using exome capture (Perkin Elmer, USA; Leeds Translational Genomics Unit, UK) was performed on 5 patients from 5 unrelated families; 4 were part of the linkage analysis. Subsequent data analysis was restricted to novel sequence variants within the linked region. The frequency of each variant was examined in >100 ethnically matched alleles available in public databases (1000 Genomes, release 12 – May 2012). Sanger sequencing was performed as described, and mutations were sequenced in family members for segregation analysis.</p><p>In detail, genomic DNA was isolated from peripheral blood lymphocytes for all subjects using standard protocols. Genotypes from polymorphic markers for 4 families were generated by DeCode, Iceland. Analyses were carried out as published before with modifications [<xref ref-type="bibr" rid="B4">4</xref>]. In short, genotypes were examined using a multipoint parametric linkage analysis and haplotype reconstruction was performed via Allegro and Genehunter for an autosomal recessive model with complete penetrance, disease allele frequency of 0.001 (DeCode map with appropriate allele frequencies). The data were formatted using Mega2 (version 4.0) through Alohomora (version 0.30, Win32); non-informative markers were filtered out. Mendelian inconsistencies were checked using PedCheck (version 1.1); unlikely genotypes were identified and filtered using Merlin (version 1.1 alpha 3). The Allegro haplotype output files were visualized with Haplopainter. In addition and in parallel, whole-genome SNP microarray analysis was performed on genomic DNA for another consanguineous family by AROS Applied Technology; resulting data were analyzed using IBD finder software [<xref ref-type="bibr" rid="B5">5</xref>]. Whole-exome sequencing was performed using 3 μg of genomic DNA, which was sheared and ligated to Illumina adapters, according to Agilent's SureSelect Library Prep protocol. The sample was then size selected (200-300 bp) by agarose gel electrophoresis and enriched for 12 cycles, using PCR prior to hybridization to the SureSelect reagent for 24 h at 65°C. The library was denatured using NaOH and diluted to a concentration of 12 pM, of which 120 μl was hybridized onto a v5 single-read flow cell (Illumina, San Diego, Calif., USA). Samples were prepared for sequencing according to Illumina's standard amplification, linearization, blocking and primer hybridization protocols. The flow cell was then loaded onto an Illumina GAIIx and sequencing performed for 80 cycles after which the raw data were processed using the Illumina pipeline. The data (qseq) files generated were aligned to the human reference sequence (hg19/GRCh37) using Novoalign short-read alignment software (Novocraft Technologies, Selangor, Malaysia). Duplicate reads and reads mapping to multiple locations were excluded from any analysis. SAMtools and the Genome Analysis Toolkit were used to further process the alignment files for variant calling [<xref ref-type="bibr" rid="B6">6</xref>,<xref ref-type="bibr" rid="B7">7</xref>].</p><p>For confirmation of variants detected by exome capture/next-generation sequencing and for mutation detection in additional cases, we amplified all coding exons and exon-intron boundaries of <italic>FAM20A</italic> using standard PCR methodology with intronic (genomic) primers. PCR products were separated on 1% agarose gels with ethidium bromide using electrophoresis and visualized under UV light. Specific bands were cut and DNA was isolated and purified using standard procedures. Bi-directional sequencing of all exons and exon-intron boundaries were performed using a Beckman Coulter CEQ8000 or an Applied Biosystems 3130xl capillary sequencer per the manufacturer's protocol. Sequencing data was analyzed and compared with the published reference sequence for <italic>FAM20A</italic> (NG_029809, April 2012, NCBI build 37.3).</p></sec><sec sec-type="results" id="sec1_3"><title>Results</title><p>We ascertained 25 patients (12 males, 13 females; age 12-64) in 16 families with NC and characteristic dental findings, i.e., the triad of AI, gingival thickening and impairment of tooth eruption (table <xref ref-type="table" rid="T1">1</xref>). The diagnosis of NC was made predominantly by nephrologists based upon characteristic imaging findings. Generalized hypoplastic AI was evident from eruption of the deciduous teeth early in childhood with subsequent impaired eruption of the permanent teeth and development of gingival enlargement. Clinical details of some patients have been published [<xref ref-type="bibr" rid="B8">8</xref>,<xref ref-type="bibr" rid="B9">9</xref>,<xref ref-type="bibr" rid="B10">10</xref>,<xref ref-type="bibr" rid="B11">11</xref>]. None of the parents or offspring of our patients had AI.</p><p>From the 16 families with this disorder, we selected four informative families (fig. <xref ref-type="fig" rid="F1">1</xref>A) for whole-genome parametric multipoint linkage studies. Using dense (2 cM) polymorphic markers, we identified a single linked locus on chromosome 17q24 with a LOD score of 3.1 (fig. <xref ref-type="fig" rid="F1">1</xref>B). Haplotype reconstruction placed the locus between flanking markers D17S1821 (97.3 cM) and D17S1797 (106.2 cM), a region of 5.3 million bases containing 41 annotated genes (NCBI build 37.3, October 2011). Independently, homozygosity mapping identified the same locus in another consanguineous family (data not shown).</p><p>To identify the disease-causing gene, we performed massive parallel sequencing using exome capture on 5 unrelated patients. Using an autosomal recessive model, limiting our analysis to the linked region, and filtering variants to eliminate common polymorphisms, we found homozygous or compound heterozygous mutations in all 5 patients in only one gene, <italic>FAM20A</italic>. A total of 20 different mutations (deletions, insertions, and splice site, missense and nonsense mutations) were identified in the homozygous or compound heterozygous state, confirmed by Sanger sequencing, and demonstrated to -segregate with the disorder in our 16 families (table <xref ref-type="table" rid="T1">1</xref>). <italic>FAM20A</italic> (cDNA 1,626 bp, protein 541 amino acids, 11 coding exons) is a member of a family of kinase-encoding genes that includes <italic>FAM20B</italic> and <italic>FAM20C</italic>.</p></sec><sec sec-type="discussion" id="sec1_4"><title>Discussion</title><p>Calcium plays many critical roles in human physiology, serving as an intracellular messenger, an extracellular neuromuscular excitatory ion, and a structural component of bone and teeth. For example, tooth enamel (calcium hydroxyapatite) is the hardest human tissue and can function into old age, despite being the only mineralized tissue with no capacity for cellular repair. Hence, the temporo-spatial concentration of calcium must be exquisitely regulated in different compartments, bound to albumin within the circulation, sequestered by calbindin within cells, including teeth [<xref ref-type="bibr" rid="B12">12</xref>], and excreted under tight control by the kidney [<xref ref-type="bibr" rid="B13">13</xref>]. Within the vasculature, calcium availability is closely modulated by an intricate interplay between bones and regulatory hormones that involves positive and negative feedback mechanisms (e.g., vitamin D, PTH, calcitonin) [<xref ref-type="bibr" rid="B14">14</xref>,<xref ref-type="bibr" rid="B15">15</xref>]. Consequences of dysregulated calcium homeostasis include nephrolithiasis and NC, i.e., precipitation of calcium in the urinary collecting system and renal interstitium, respectively.</p><p>The processes that normally maintain calcium balance in renal tissues can be delineated by studying genetic disorders involving NC. A prime example lies in an autosomal recessive disorder of NC combined with AI. Linkage analysis and focused exome sequencing performed on affected families identified the causative gene as <italic>FAM20A</italic>, previously associated only with a disorder of AI [<xref ref-type="bibr" rid="B16">16</xref>,<xref ref-type="bibr" rid="B17">17</xref>].</p><p>Previous causes of NC have involved epithelial and paracellular disturbances in calcium transport, predominantly caused by mutations in calcium-specific channels and proteins [<xref ref-type="bibr" rid="B18">18</xref>,<xref ref-type="bibr" rid="B19">19</xref>,<xref ref-type="bibr" rid="B20">20</xref>]. These systems either reabsorb filtered calcium from the filtrate (urine) across the renal tubular cell or release calcium from the tubular cell into the interstitial compartment. When they malfunction, increased urinary calcium precipitates within the renal tubule (leading to nephrolithiasis and urolithiasis) or within the interstitium (leading to NC); this is invariably accompanied by hypercalciuria.</p><p>Our 25 patients exhibited NC and AI, but ascertainment of other patients with biallelic <italic>FAM20A</italic> mutations will expand the phenotype and define the entire spectrum of this rare disease. Also, two different <italic>Fam20a</italic> knock-out mouse models exhibited different findings; in one, no kidney findings were reported, whereas the other showed arterial calcification without NC [<xref ref-type="bibr" rid="B21">21</xref>,<xref ref-type="bibr" rid="B22">22</xref>]. The patients previously reported with <italic>FAM20A</italic> mutations and AI may also prove to have NC.</p></sec><sec sec-type="Conclusions" id="sec1_5"><title>Conclusions</title><p>Our findings have implications for diagnosis and treatment. FAM20A is a locally secreted protein with low abundance in saliva [<xref ref-type="bibr" rid="B23">23</xref>] and blood [<xref ref-type="bibr" rid="B24">24</xref>], suggesting that replacement therapy could provide an option for a treatment or prophylaxis.</p></sec></body><back><ack><title>Acknowledgements</title><p>The authors thank all participating patients and families. We dedicate this work to the late Professor Oliver Wrong, who remained actively involved in these studies from their inception in the 1990s until his passing in February 2012, and whom we miss dearly. Funding for this study was kindly provided by the David and Elaine Potter Charitable Foundation (to R.K.), St Peter's Trust for Kidney, Bladder and Prostate Research (to D. Bockenhauer, R.J.U., R.K.), Kids Kidney Research (to D. Bockenhauer, R.K.), the Oxalosis & Hyperoxaluria Foundation (to R.K.), the European Union, FP7 EURenOMICS grant agreement No. 305608 (to D. Bockenhauer, R.J.U., R.K.), the Intramural Research Program of the National Human Genome Research Institute (to W.A.G.), the MEXT-Supported Program for the Strategic Research Foundation at Private Universities, 2012-2016 (to H.K.), the Wellcome Trust (to A.M., C.I.), the Sir Jules Thorn Charitable Trust (to C.J., C.I.), the University of Strasbourg (to A.B.-Z.), the French Ministry of Health National Program for Clinical Research (to A.B.-Z.), the Hôpitaux Universitaires de Strasbourg (to A.B.-Z.), the Institut Français pour la Recherche Odontologique (IFRO) (to A.B.-Z.), INSERM (to M.Q., A.B.), the Paris-Descartes University (to M.Q.), the French Ministry of Health and APHP Rothschild Hospital (to M.D.M.), the Paris-Diderot University (to M.D.M., A.A., A.B.), the F.R.S.-FNRS (Fonds de la Recherche Scientifique) (to M.V.), the Minas Gerais State Research Foundation (FAPEMIG) (to H.M.-J.), CAPES Brazil (to A.C.A.), and Deutsche Forschungsgemeinschaft (Ci 107/4-2) (to 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Black symbols indicate affected, white unaffected, squares males and circles females. <bold>B</bold> LOD score analysis for chromosome 17. Note the single significant peak at 17q24.</p></caption><graphic xlink:href="nep-0122-0001-g01"></graphic></fig><table-wrap id="T1" orientation="portrait" position="float"><label>Table 1</label><caption><p>FAM20A mutations in patients with NC and AI</p></caption><table frame="hsides" rules="groups"><thead><tr valign="top"><th align="left" rowspan="1" colspan="1">Family</th><th align="left" rowspan="1" colspan="1">Age, years</th><th align="left" rowspan="1" colspan="1">Gender</th><th align="left" rowspan="1" colspan="1"><italic>FAM20A</italic> mutations</th></tr></thead><tbody><tr valign="top"><td align="left" rowspan="1" colspan="1">1</td><td align="left" rowspan="1" colspan="1">21</td><td align="left" rowspan="1" colspan="1">male</td><td align="left" rowspan="1" colspan="1">c.915-918delCTTT; p.F305fsX380</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">2</td><td align="left" rowspan="1" colspan="1">27</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">IVS2 + 1G>A/c.913–914delTT; p.F305fsX378</td></tr><tr><td rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">31</td><td align="left" rowspan="1" colspan="1">male</td><td align="left" rowspan="1" colspan="1">IVS2 + 1G>A/c.913–914delTT; p.F305fsX378</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">3</td><td align="left" rowspan="1" colspan="1">23</td><td align="left" rowspan="1" colspan="1">male</td><td align="left" rowspan="1" colspan="1">IVS4 + 1G>C/c.1348–1349delTC; p.S450fsX469</td></tr><tr><td rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">25</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">IVS4 + 1G>C/c.1348–1349delTC; p.S450fsX469</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">4</td><td align="left" rowspan="1" colspan="1">59</td><td align="left" rowspan="1" colspan="1">male</td><td align="left" rowspan="1" colspan="1">c.1475–1482dupAACCCCAC; p.L495fsX509</td></tr><tr><td rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">64</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">c.1475–1482dupAACCCCAC; p.L495fsX509</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">5</td><td align="left" rowspan="1" colspan="1">12</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">c.406C>T; p.R136X</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">6</td><td align="left" rowspan="1" colspan="1">20</td><td align="left" rowspan="1" colspan="1">male</td><td align="left" rowspan="1" colspan="1">c.34–35delCT; p.L12fsX78</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">7</td><td align="left" rowspan="1" colspan="1">16</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">c.1513delA; p.I505fsX506</td></tr><tr><td rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">22</td><td align="left" rowspan="1" colspan="1">male</td><td align="left" rowspan="1" colspan="1">c.1513delA; p.I505fsX506</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">8</td><td align="left" rowspan="1" colspan="1">20</td><td align="left" rowspan="1" colspan="1">male</td><td align="left" rowspan="1" colspan="1">c.1432C>T; p.R478X</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">9</td><td align="left" rowspan="1" colspan="1">13</td><td align="left" rowspan="1" colspan="1">male</td><td align="left" rowspan="1" colspan="1">c.518T>G; p.L173R</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">10</td><td align="left" rowspan="1" colspan="1">29</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">c.727C>T/c.1228–-1229delGA; p.R243X/p.D410fsX414</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">11</td><td align="left" rowspan="1" colspan="1">19</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">c.217C>T/c.727C>T; p.R73X/p.R243X</td></tr><tr><td rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">20</td><td align="left" rowspan="1" colspan="1">male</td><td align="left" rowspan="1" colspan="1">c.217C>T/c.727C>T; p.R73X/p.R243X</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">12</td><td align="left" rowspan="1" colspan="1">18</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">c.1369A>T; p.K457X</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">13</td><td align="left" rowspan="1" colspan="1">14</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">c.755–757delTCT/c.641-719del79bp; p.F252del/p.I214fsX259</td></tr><tr><td rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">16</td><td align="left" rowspan="1" colspan="1">male</td><td align="left" rowspan="1" colspan="1">c.755–757delTCT/c.641–719del79bp; p.F252del/p.I214fsX259</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">14</td><td align="left" rowspan="1" colspan="1">21</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">IVS5 + 2T>G</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">15</td><td align="left" rowspan="1" colspan="1">24</td><td align="left" rowspan="1" colspan="1">male</td><td align="left" rowspan="1" colspan="1">c.907–908delAG; p.S303fsX378</td></tr><tr><td rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">31</td><td align="left" rowspan="1" colspan="1">male</td><td align="left" rowspan="1" colspan="1">c.907–908delAG; p.S303fsX378</td></tr><tr><td rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">37</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">c.907–908delAG; p.S303fsX378</td></tr><tr><td align="left" colspan="4" rowspan="1"><hr></hr></td></tr><tr valign="top"><td align="left" rowspan="1" colspan="1">16</td><td align="left" rowspan="1" colspan="1">17</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">c.34–35delCT/c.612delC; p.L12fsX78/p.A204fsX215</td></tr><tr><td rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">18</td><td align="left" rowspan="1" colspan="1">female</td><td align="left" rowspan="1" colspan="1">c.34–35delCT/c.612delC; p.L12fsX78/p.A204fsX215</td></tr></tbody></table><table-wrap-foot><fn><p>Mutations are described on the cDNA and predicted protein levels. Listing of one allele indicates homozygosity; two alleles indicate compound heterozygosity. Every patient had biallelic mutations involving insertions, deletions, essential splice sites, missense changes or nonsense changes.</p></fn></table-wrap-foot></table-wrap></floats-group></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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