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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mainzer-Saldino Syndrome Is a Ciliopathy Caused by <italic>IFT140</italic> Mutations</title><author><name sortKey="Perrault, Isabelle" sort="Perrault, Isabelle" uniqKey="Perrault I" first="Isabelle" last="Perrault">Isabelle Perrault</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Hanein, Sylvain" sort="Hanein, Sylvain" uniqKey="Hanein S" first="Sylvain" last="Hanein">Sylvain Hanein</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Filhol, Emilie" sort="Filhol, Emilie" uniqKey="Filhol E" first="Emilie" last="Filhol">Emilie Filhol</name><affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bizet, Albane A" sort="Bizet, Albane A" uniqKey="Bizet A" first="Albane A." last="Bizet">Albane A. Bizet</name><affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name><affiliation><nlm:aff id="aff3">Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name><affiliation><nlm:aff id="aff4">Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia</nlm:aff></affiliation></author><author><name sortKey="Gerber, Sylvie" sort="Gerber, Sylvie" uniqKey="Gerber S" first="Sylvie" last="Gerber">Sylvie Gerber</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Delphin, Nathalie" sort="Delphin, Nathalie" uniqKey="Delphin N" first="Nathalie" last="Delphin">Nathalie Delphin</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bigot, Karine" sort="Bigot, Karine" uniqKey="Bigot K" first="Karine" last="Bigot">Karine Bigot</name><affiliation><nlm:aff id="aff5">Centre d'Exploration et de Ressources Thérapeutiques en Ophtalmologie (CERTO), 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Orssaud, Christophe" sort="Orssaud, Christophe" uniqKey="Orssaud C" first="Christophe" last="Orssaud">Christophe Orssaud</name><affiliation><nlm:aff id="aff6">Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Silva, Eduardo" sort="Silva, Eduardo" uniqKey="Silva E" first="Eduardo" last="Silva">Eduardo Silva</name><affiliation><nlm:aff id="aff7">Department of Ophthalmology, Coimbra University Hospital, 3000-548 Coimbra, Portugal</nlm:aff></affiliation></author><author><name sortKey="Baudouin, Veronique" sort="Baudouin, Veronique" uniqKey="Baudouin V" first="Véronique" last="Baudouin">Véronique Baudouin</name><affiliation><nlm:aff id="aff8">Department of Nephrology, Centre Hospitalier Universitaire (CHU) Robert Debré, 75019 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Oud, Machteld M" sort="Oud, Machteld M" uniqKey="Oud M" first="Machteld M." last="Oud">Machteld M. Oud</name><affiliation><nlm:aff id="aff9">Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Shannon, Nora" sort="Shannon, Nora" uniqKey="Shannon N" first="Nora" last="Shannon">Nora Shannon</name><affiliation><nlm:aff id="aff10">Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK</nlm:aff></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Roche, Olivier" sort="Roche, Olivier" uniqKey="Roche O" first="Olivier" last="Roche">Olivier Roche</name><affiliation><nlm:aff id="aff6">Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Pietrement, Christine" sort="Pietrement, Christine" uniqKey="Pietrement C" first="Christine" last="Pietrement">Christine Pietrement</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, American Memorial Hospital, CHU Reims, 51092 Reims Cedex, France</nlm:aff></affiliation></author><author><name sortKey="Goumid, Jamal" sort="Goumid, Jamal" uniqKey="Goumid J" first="Jamal" last="Goumid">Jamal Goumid</name><affiliation><nlm:aff id="aff12">Department of Genetics, CHU Robert Debré, 75019 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name><affiliation><nlm:aff id="aff12">Department of Genetics, CHU Robert Debré, 75019 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><affiliation><nlm:aff id="aff13">Genomics Platform,<italic>Imagine</italic> Foundation and Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><affiliation><nlm:aff id="aff14">Bioinformatics Platform, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Zahrate, Mohammed" sort="Zahrate, Mohammed" uniqKey="Zahrate M" first="Mohammed" last="Zahrate">Mohammed Zahrate</name><affiliation><nlm:aff id="aff13">Genomics Platform,<italic>Imagine</italic> Foundation and Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Beales, Philip" sort="Beales, Philip" uniqKey="Beales P" first="Philip" last="Beales">Philip Beales</name><affiliation><nlm:aff id="aff15">Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Arts, Heleen H" sort="Arts, Heleen H" uniqKey="Arts H" first="Heleen H." last="Arts">Heleen H. Arts</name><affiliation><nlm:aff id="aff9">Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Kaplan, Josseline" sort="Kaplan, Josseline" uniqKey="Kaplan J" first="Josseline" last="Kaplan">Josseline Kaplan</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Rozet, Jean Michel" sort="Rozet, Jean Michel" uniqKey="Rozet J" first="Jean-Michel" last="Rozet">Jean-Michel Rozet</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22503633</idno><idno type="pmc">3376548</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376548</idno><idno type="RBID">PMC:3376548</idno><idno type="doi">10.1016/j.ajhg.2012.03.006</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001197</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001197</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mainzer-Saldino Syndrome Is a Ciliopathy Caused by <italic>IFT140</italic> Mutations</title><author><name sortKey="Perrault, Isabelle" sort="Perrault, Isabelle" uniqKey="Perrault I" first="Isabelle" last="Perrault">Isabelle Perrault</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Hanein, Sylvain" sort="Hanein, Sylvain" uniqKey="Hanein S" first="Sylvain" last="Hanein">Sylvain Hanein</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Filhol, Emilie" sort="Filhol, Emilie" uniqKey="Filhol E" first="Emilie" last="Filhol">Emilie Filhol</name><affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bizet, Albane A" sort="Bizet, Albane A" uniqKey="Bizet A" first="Albane A." last="Bizet">Albane A. Bizet</name><affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name><affiliation><nlm:aff id="aff3">Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name><affiliation><nlm:aff id="aff4">Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia</nlm:aff></affiliation></author><author><name sortKey="Gerber, Sylvie" sort="Gerber, Sylvie" uniqKey="Gerber S" first="Sylvie" last="Gerber">Sylvie Gerber</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Delphin, Nathalie" sort="Delphin, Nathalie" uniqKey="Delphin N" first="Nathalie" last="Delphin">Nathalie Delphin</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bigot, Karine" sort="Bigot, Karine" uniqKey="Bigot K" first="Karine" last="Bigot">Karine Bigot</name><affiliation><nlm:aff id="aff5">Centre d'Exploration et de Ressources Thérapeutiques en Ophtalmologie (CERTO), 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Orssaud, Christophe" sort="Orssaud, Christophe" uniqKey="Orssaud C" first="Christophe" last="Orssaud">Christophe Orssaud</name><affiliation><nlm:aff id="aff6">Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Silva, Eduardo" sort="Silva, Eduardo" uniqKey="Silva E" first="Eduardo" last="Silva">Eduardo Silva</name><affiliation><nlm:aff id="aff7">Department of Ophthalmology, Coimbra University Hospital, 3000-548 Coimbra, Portugal</nlm:aff></affiliation></author><author><name sortKey="Baudouin, Veronique" sort="Baudouin, Veronique" uniqKey="Baudouin V" first="Véronique" last="Baudouin">Véronique Baudouin</name><affiliation><nlm:aff id="aff8">Department of Nephrology, Centre Hospitalier Universitaire (CHU) Robert Debré, 75019 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Oud, Machteld M" sort="Oud, Machteld M" uniqKey="Oud M" first="Machteld M." last="Oud">Machteld M. Oud</name><affiliation><nlm:aff id="aff9">Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Shannon, Nora" sort="Shannon, Nora" uniqKey="Shannon N" first="Nora" last="Shannon">Nora Shannon</name><affiliation><nlm:aff id="aff10">Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK</nlm:aff></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Roche, Olivier" sort="Roche, Olivier" uniqKey="Roche O" first="Olivier" last="Roche">Olivier Roche</name><affiliation><nlm:aff id="aff6">Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Pietrement, Christine" sort="Pietrement, Christine" uniqKey="Pietrement C" first="Christine" last="Pietrement">Christine Pietrement</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, American Memorial Hospital, CHU Reims, 51092 Reims Cedex, France</nlm:aff></affiliation></author><author><name sortKey="Goumid, Jamal" sort="Goumid, Jamal" uniqKey="Goumid J" first="Jamal" last="Goumid">Jamal Goumid</name><affiliation><nlm:aff id="aff12">Department of Genetics, CHU Robert Debré, 75019 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name><affiliation><nlm:aff id="aff12">Department of Genetics, CHU Robert Debré, 75019 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><affiliation><nlm:aff id="aff13">Genomics Platform,<italic>Imagine</italic> Foundation and Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><affiliation><nlm:aff id="aff14">Bioinformatics Platform, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Zahrate, Mohammed" sort="Zahrate, Mohammed" uniqKey="Zahrate M" first="Mohammed" last="Zahrate">Mohammed Zahrate</name><affiliation><nlm:aff id="aff13">Genomics Platform,<italic>Imagine</italic> Foundation and Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Beales, Philip" sort="Beales, Philip" uniqKey="Beales P" first="Philip" last="Beales">Philip Beales</name><affiliation><nlm:aff id="aff15">Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Arts, Heleen H" sort="Arts, Heleen H" uniqKey="Arts H" first="Heleen H." last="Arts">Heleen H. Arts</name><affiliation><nlm:aff id="aff9">Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Kaplan, Josseline" sort="Kaplan, Josseline" uniqKey="Kaplan J" first="Josseline" last="Kaplan">Josseline Kaplan</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><affiliation><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Rozet, Jean Michel" sort="Rozet, Jean Michel" uniqKey="Rozet J" first="Jean-Michel" last="Rozet">Jean-Michel Rozet</name><affiliation><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified <italic>IFT140</italic> mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22503633</article-id><article-id pub-id-type="pmc">3376548</article-id><article-id pub-id-type="publisher-id">AJHG1114</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2012.03.006</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Mainzer-Saldino Syndrome Is a Ciliopathy Caused by <italic>IFT140</italic> Mutations</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Perrault</surname><given-names>Isabelle</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">16</xref></contrib><contrib contrib-type="author"><name><surname>Saunier</surname><given-names>Sophie</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">16</xref></contrib><contrib contrib-type="author"><name><surname>Hanein</surname><given-names>Sylvain</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Filhol</surname><given-names>Emilie</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Bizet</surname><given-names>Albane A.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Collins</surname><given-names>Felicity</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Salih</surname><given-names>Mustafa A.M.</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Gerber</surname><given-names>Sylvie</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Delphin</surname><given-names>Nathalie</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Bigot</surname><given-names>Karine</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Orssaud</surname><given-names>Christophe</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Silva</surname><given-names>Eduardo</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Baudouin</surname><given-names>Véronique</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Oud</surname><given-names>Machteld M.</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Shannon</surname><given-names>Nora</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Le Merrer</surname><given-names>Martine</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Roche</surname><given-names>Olivier</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Pietrement</surname><given-names>Christine</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Goumid</surname><given-names>Jamal</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Baumann</surname><given-names>Clarisse</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Bole-Feysot</surname><given-names>Christine</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Nitschke</surname><given-names>Patrick</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Zahrate</surname><given-names>Mohammed</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Beales</surname><given-names>Philip</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Arts</surname><given-names>Heleen H.</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Munnich</surname><given-names>Arnold</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Kaplan</surname><given-names>Josseline</given-names></name><email>josseline.kaplan@inserm.fr</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib><contrib contrib-type="author"><name><surname>Antignac</surname><given-names>Corinne</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Cormier-Daire</surname><given-names>Valérie</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Rozet</surname><given-names>Jean-Michel</given-names></name><email>jean-michel.rozet@inserm.fr</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="cor2" ref-type="corresp">∗∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</aff><aff id="aff2"><label>2</label>INSERM, U983, Paris Descartes University, 75015 Paris, France</aff><aff id="aff3"><label>3</label>Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia</aff><aff id="aff4"><label>4</label>Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia</aff><aff id="aff5"><label>5</label>Centre d'Exploration et de Ressources Thérapeutiques en Ophtalmologie (CERTO), 75015 Paris, France</aff><aff id="aff6"><label>6</label>Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</aff><aff id="aff7"><label>7</label>Department of Ophthalmology, Coimbra University Hospital, 3000-548 Coimbra, Portugal</aff><aff id="aff8"><label>8</label>Department of Nephrology, Centre Hospitalier Universitaire (CHU) Robert Debré, 75019 Paris, France</aff><aff id="aff9"><label>9</label>Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</aff><aff id="aff10"><label>10</label>Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK</aff><aff id="aff11"><label>11</label>Department of Pediatrics, American Memorial Hospital, CHU Reims, 51092 Reims Cedex, France</aff><aff id="aff12"><label>12</label>Department of Genetics, CHU Robert Debré, 75019 Paris, France</aff><aff id="aff13"><label>13</label>Genomics Platform,<italic>Imagine</italic> Foundation and Paris Descartes University, 75015 Paris, France</aff><aff id="aff14"><label>14</label>Bioinformatics Platform, Paris Descartes University, 75015 Paris, France</aff><aff id="aff15"><label>15</label>Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>josseline.kaplan@inserm.fr</email></corresp><corresp id="cor2"><label>∗∗</label>Corresponding author <email>jean-michel.rozet@inserm.fr</email></corresp><fn id="fn1"><label>16</label><p>These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>04</day><month>5</month><year>2012</year></pub-date><volume>90</volume><issue>5</issue><fpage>864</fpage><lpage>870</lpage><history><date date-type="received"><day>4</day><month>1</month><year>2012</year></date><date date-type="rev-recd"><day>1</day><month>2</month><year>2012</year></date><date date-type="accepted"><day>9</day><month>3</month><year>2012</year></date></history><permissions><copyright-statement>© 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2012</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified <italic>IFT140</italic> mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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