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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Stickler syndrome caused by <italic>COL2A1</italic> mutations: genotype–phenotype correlation in a series of 100 patients</title><author><name sortKey="Hoornaert, Kristien P" sort="Hoornaert, Kristien P" uniqKey="Hoornaert K" first="Kristien P" last="Hoornaert">Kristien P. Hoornaert</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Vereecke, Inge" sort="Vereecke, Inge" uniqKey="Vereecke I" first="Inge" last="Vereecke">Inge Vereecke</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Dewinter, Chantal" sort="Dewinter, Chantal" uniqKey="Dewinter C" first="Chantal" last="Dewinter">Chantal Dewinter</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Rosenberg, Thomas" sort="Rosenberg, Thomas" uniqKey="Rosenberg T" first="Thomas" last="Rosenberg">Thomas Rosenberg</name><affiliation><nlm:aff id="aff2"><institution>National Eye Clinic, Gordon Norrie Centre for Genetic Eye Diseases</institution>, Hellerup,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Beemer, Frits A" sort="Beemer, Frits A" uniqKey="Beemer F" first="Frits A" last="Beemer">Frits A. Beemer</name><affiliation><nlm:aff id="aff3"><institution>Center for Medical Genetics</institution>, Utrecht,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Leroy, Jules G" sort="Leroy, Jules G" uniqKey="Leroy J" first="Jules G" last="Leroy">Jules G. Leroy</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Bendix, Laila" sort="Bendix, Laila" uniqKey="Bendix L" first="Laila" last="Bendix">Laila Bendix</name><affiliation><nlm:aff id="aff4"><institution>Department of Clinical Genetics, University of Southern Denmark, Vejle Hospital</institution>, Vejle,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Bjorck, Erik" sort="Bjorck, Erik" uniqKey="Bjorck E" first="Erik" last="Björck">Erik Björck</name><affiliation><nlm:aff id="aff5"><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>, Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Bonduelle, Maryse" sort="Bonduelle, Maryse" uniqKey="Bonduelle M" first="Maryse" last="Bonduelle">Maryse Bonduelle</name><affiliation><nlm:aff id="aff6"><institution>Center for Medical Genetics</institution>, UZ Brussel,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Boute, Odile" sort="Boute, Odile" uniqKey="Boute O" first="Odile" last="Boute">Odile Boute</name><affiliation><nlm:aff id="aff7"><institution>Center for Clinical Genetics, Hopital Jeanne de Flandre</institution>, Lille,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation><nlm:aff id="aff8"><institution>Department of Medical Genetics, Université Paris Descartes, Necker Enfants Malades Hospital</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="De Die Smulders, Christine" sort="De Die Smulders, Christine" uniqKey="De Die Smulders C" first="Christine" last="De Die-Smulders">Christine De Die-Smulders</name><affiliation><nlm:aff id="aff9"><institution>Department of Clinical Genetics, University Hospital Maastricht</institution>, Maastricht,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Dieux Coeslier, Anne" sort="Dieux Coeslier, Anne" uniqKey="Dieux Coeslier A" first="Anne" last="Dieux-Coeslier">Anne Dieux-Coeslier</name><affiliation><nlm:aff id="aff7"><institution>Center for Clinical Genetics, Hopital Jeanne de Flandre</institution>, Lille,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation><nlm:aff id="aff10"><institution>Centre de reference pour les Affections Rares et Génétique Ophthalmologique (CARGO), Hôpitaux Universitaires de Strasbourg</institution>, Strasbourg,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Elting, Mariet" sort="Elting, Mariet" uniqKey="Elting M" first="Mariet" last="Elting">Mariet Elting</name><affiliation><nlm:aff id="aff11"><institution>Department of Clinical Genetics, VU University Medical Center</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Green, Andrew" sort="Green, Andrew" uniqKey="Green A" first="Andrew" last="Green">Andrew Green</name><affiliation><nlm:aff id="aff12"><institution>National Centre for Medical Genetics Our Lady's Hospital</institution>, Dublin,<country>Ireland</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff13"><institution>University College Dublin School of Medicine and Medical Science</institution>, Dublin,<country>Ireland</country></nlm:aff></affiliation></author><author><name sortKey="Guerci, Veronica I" sort="Guerci, Veronica I" uniqKey="Guerci V" first="Veronica I" last="Guerci">Veronica I. Guerci</name><affiliation><nlm:aff id="aff14"><institution>Metabolic Disease Unit, IRCCS Burlo Garofolo</institution>, Trieste,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C M" last="Hennekam">Raoul C M. Hennekam</name><affiliation><nlm:aff id="aff15"><institution>Clinical and Molecular Genetics Unit, Institute of Child Health, University College London</institution>, London,<country>UK</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff16"><institution>Department of Pediatrics, Academic Medical Center, University of Amsterdam</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Hilhorts Hofstee, Yvonne" sort="Hilhorts Hofstee, Yvonne" uniqKey="Hilhorts Hofstee Y" first="Yvonne" last="Hilhorts-Hofstee">Yvonne Hilhorts-Hofstee</name><affiliation><nlm:aff id="aff17"><institution>Department of Clinical Genetics, Leiden University Medical Center</institution>, Leiden,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Holder, Muriel" sort="Holder, Muriel" uniqKey="Holder M" first="Muriel" last="Holder">Muriel Holder</name><affiliation><nlm:aff id="aff7"><institution>Center for Clinical Genetics, Hopital Jeanne de Flandre</institution>, Lille,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Hoyng, Carel" sort="Hoyng, Carel" uniqKey="Hoyng C" first="Carel" last="Hoyng">Carel Hoyng</name><affiliation><nlm:aff id="aff18"><institution>Department of Ophthalmology, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Jones, Kristi J" sort="Jones, Kristi J" uniqKey="Jones K" first="Kristi J" last="Jones">Kristi J. Jones</name><affiliation><nlm:aff id="aff19"><institution>Western Sydney Genetics Program, The Children's Hospital at Westmead</institution>, Sydney,<country>Australia</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Discipline of Paediatrics and Child Health, University of Sydney</institution>, Sydney,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Josifova, Dragana" sort="Josifova, Dragana" uniqKey="Josifova D" first="Dragana" last="Josifova">Dragana Josifova</name><affiliation><nlm:aff id="aff21"><institution>Department of Clinical Genetics, Guy's Hospital</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Kaitila, Ilkka" sort="Kaitila, Ilkka" uniqKey="Kaitila I" first="Ilkka" last="Kaitila">Ilkka Kaitila</name><affiliation><nlm:aff id="aff22"><institution>Department of Clinical Genetics, Helsinki University Central Hospital</institution>, Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Kjaergaard, Suzanne" sort="Kjaergaard, Suzanne" uniqKey="Kjaergaard S" first="Suzanne" last="Kjaergaard">Suzanne Kjaergaard</name><affiliation><nlm:aff id="aff23"><institution>Department of Clinical Genetics, Rigshospitalet</institution>, Copenhagen,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Kroes, Yolande H" sort="Kroes, Yolande H" uniqKey="Kroes Y" first="Yolande H" last="Kroes">Yolande H. Kroes</name><affiliation><nlm:aff id="aff3"><institution>Center for Medical Genetics</institution>, Utrecht,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Lagerstedt, Kristina" sort="Lagerstedt, Kristina" uniqKey="Lagerstedt K" first="Kristina" last="Lagerstedt">Kristina Lagerstedt</name><affiliation><nlm:aff id="aff5"><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>, Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Lees, Melissa" sort="Lees, Melissa" uniqKey="Lees M" first="Melissa" last="Lees">Melissa Lees</name><affiliation><nlm:aff id="aff15"><institution>Clinical and Molecular Genetics Unit, Institute of Child Health, University College London</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Lemerrer, Martine" sort="Lemerrer, Martine" uniqKey="Lemerrer M" first="Martine" last="Lemerrer">Martine Lemerrer</name><affiliation><nlm:aff id="aff8"><institution>Department of Medical Genetics, Université Paris Descartes, Necker Enfants Malades Hospital</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Magnani, Cinzia" sort="Magnani, Cinzia" uniqKey="Magnani C" first="Cinzia" last="Magnani">Cinzia Magnani</name><affiliation><nlm:aff id="aff24"><institution>Department of Paediatrics, University Hospital of Parma</institution>, Parma,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Marcelis, Carlo" sort="Marcelis, Carlo" uniqKey="Marcelis C" first="Carlo" last="Marcelis">Carlo Marcelis</name><affiliation><nlm:aff id="aff25"><institution>Department of Human Genetics, Radboud University Medical Centre Nijmegen</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Martorell, Loreto" sort="Martorell, Loreto" uniqKey="Martorell L" first="Loreto" last="Martorell">Loreto Martorell</name><affiliation><nlm:aff id="aff26"><institution>Department of Genetics, Hospital Sant Joan de Déu</institution>, Barcelona,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Mathieu, Michele" sort="Mathieu, Michele" uniqKey="Mathieu M" first="Michèle" last="Mathieu">Michèle Mathieu</name><affiliation><nlm:aff id="aff27"><institution>Clinical Genetics, CHU Nord</institution>, Amiens,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Mcentagart, Meriel" sort="Mcentagart, Meriel" uniqKey="Mcentagart M" first="Meriel" last="Mcentagart">Meriel Mcentagart</name><affiliation><nlm:aff id="aff28"><institution>Clinical Genetics, St George's University of London</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mendicino, Angela" sort="Mendicino, Angela" uniqKey="Mendicino A" first="Angela" last="Mendicino">Angela Mendicino</name><affiliation><nlm:aff id="aff29"><institution>U.O.S. di Genetica, DTMI, ASL RME</institution>, Roma,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Morton, Jenny" sort="Morton, Jenny" uniqKey="Morton J" first="Jenny" last="Morton">Jenny Morton</name><affiliation><nlm:aff id="aff30"><institution>Clinical Genetics Unit, Birmingham Women's Hospital</institution>, Birmingham,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Orazio, Gabrielli" sort="Orazio, Gabrielli" uniqKey="Orazio G" first="Gabrielli" last="Orazio">Gabrielli Orazio</name><affiliation><nlm:aff id="aff31"><institution>Department of Clinical Genetics, Ospedale G. Salesi</institution>, Ancona,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Paquis, Veronique" sort="Paquis, Veronique" uniqKey="Paquis V" first="Véronique" last="Paquis">Véronique Paquis</name><affiliation><nlm:aff id="aff32"><institution>Department of Clinical Genetics, Hopital de L'Arghet</institution>, Nice,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Reish, Orit" sort="Reish, Orit" uniqKey="Reish O" first="Orit" last="Reish">Orit Reish</name><affiliation><nlm:aff id="aff33"><institution>Genetics Institute, Assaf Harofeh Medical Center</institution>, Zerifin,<country>Israel</country></nlm:aff></affiliation></author><author><name sortKey="Simola, Kalle O J" sort="Simola, Kalle O J" uniqKey="Simola K" first="Kalle O J" last="Simola">Kalle O J. Simola</name><affiliation><nlm:aff id="aff34"><institution>Department of Pediatrics, Tampere University Hospital</institution>, Tampere,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Smithson, Sarah F" sort="Smithson, Sarah F" uniqKey="Smithson S" first="Sarah F" last="Smithson">Sarah F. Smithson</name><affiliation><nlm:aff id="aff35"><institution>Department for Clinical Genetics, St Michael's Hospital</institution>, Bristol,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Temple, Karen I" sort="Temple, Karen I" uniqKey="Temple K" first="Karen I" last="Temple">Karen I. Temple</name><affiliation><nlm:aff id="aff36"><institution>Academic Unit of Genetic Medicine, Division of Human Genetics, University of Southampton</institution>, Southampton,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Van Aken, Elisabeth" sort="Van Aken, Elisabeth" uniqKey="Van Aken E" first="Elisabeth" last="Van Aken">Elisabeth Van Aken</name><affiliation><nlm:aff id="aff37"><institution>Department of Ophthalmology, Ghent University Hospital</institution>, Gent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Van Bever, Yolande" sort="Van Bever, Yolande" uniqKey="Van Bever Y" first="Yolande" last="Van Bever">Yolande Van Bever</name><affiliation><nlm:aff id="aff38"><institution>Department of Clinical Genetics, Erasmus MC</institution>, Rotterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Den Ende, Jenneke" sort="Van Den Ende, Jenneke" uniqKey="Van Den Ende J" first="Jenneke" last="Van Den Ende">Jenneke Van Den Ende</name><affiliation><nlm:aff id="aff39"><institution>Center for Medical Genetics, University Hospital</institution>, Antwerp,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Van Hagen, Johanna M" sort="Van Hagen, Johanna M" uniqKey="Van Hagen J" first="Johanna M" last="Van Hagen">Johanna M. Van Hagen</name><affiliation><nlm:aff id="aff40"><institution>Department of Clinical Genetics, University Medical Center</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Zelante, Leopoldo" sort="Zelante, Leopoldo" uniqKey="Zelante L" first="Leopoldo" last="Zelante">Leopoldo Zelante</name><affiliation><nlm:aff id="aff41"><institution>Medical Genetics Service, IRCCS Casa Sollievo della Sofferenza</institution>, San Giovanni Rotondo,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Zordania, Riina" sort="Zordania, Riina" uniqKey="Zordania R" first="Riina" last="Zordania">Riina Zordania</name><affiliation><nlm:aff id="aff42"><institution>Clinical Genetics, Tallinn Children's Hospital</institution>, Tallinn,<country>Estonia</country></nlm:aff></affiliation></author><author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Leroy, Bart P" sort="Leroy, Bart P" uniqKey="Leroy B" first="Bart P" last="Leroy">Bart P. Leroy</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff37"><institution>Department of Ophthalmology, Ghent University Hospital</institution>, Gent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="De Buyzere, Marc" sort="De Buyzere, Marc" uniqKey="De Buyzere M" first="Marc" last="De Buyzere">Marc De Buyzere</name><affiliation><nlm:aff id="aff43"><institution>Heart Center, Ghent University Hospital</institution>, Gent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Coucke, Paul J" sort="Coucke, Paul J" uniqKey="Coucke P" first="Paul J" last="Coucke">Paul J. Coucke</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R" last="Mortier">Geert R. Mortier</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20179744</idno><idno type="pmc">2987380</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987380</idno><idno type="RBID">PMC:2987380</idno><idno type="doi">10.1038/ejhg.2010.23</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">000055</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000055</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Stickler syndrome caused by <italic>COL2A1</italic> mutations: genotype–phenotype correlation in a series of 100 patients</title><author><name sortKey="Hoornaert, Kristien P" sort="Hoornaert, Kristien P" uniqKey="Hoornaert K" first="Kristien P" last="Hoornaert">Kristien P. Hoornaert</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Vereecke, Inge" sort="Vereecke, Inge" uniqKey="Vereecke I" first="Inge" last="Vereecke">Inge Vereecke</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Dewinter, Chantal" sort="Dewinter, Chantal" uniqKey="Dewinter C" first="Chantal" last="Dewinter">Chantal Dewinter</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Rosenberg, Thomas" sort="Rosenberg, Thomas" uniqKey="Rosenberg T" first="Thomas" last="Rosenberg">Thomas Rosenberg</name><affiliation><nlm:aff id="aff2"><institution>National Eye Clinic, Gordon Norrie Centre for Genetic Eye Diseases</institution>, Hellerup,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Beemer, Frits A" sort="Beemer, Frits A" uniqKey="Beemer F" first="Frits A" last="Beemer">Frits A. Beemer</name><affiliation><nlm:aff id="aff3"><institution>Center for Medical Genetics</institution>, Utrecht,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Leroy, Jules G" sort="Leroy, Jules G" uniqKey="Leroy J" first="Jules G" last="Leroy">Jules G. Leroy</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Bendix, Laila" sort="Bendix, Laila" uniqKey="Bendix L" first="Laila" last="Bendix">Laila Bendix</name><affiliation><nlm:aff id="aff4"><institution>Department of Clinical Genetics, University of Southern Denmark, Vejle Hospital</institution>, Vejle,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Bjorck, Erik" sort="Bjorck, Erik" uniqKey="Bjorck E" first="Erik" last="Björck">Erik Björck</name><affiliation><nlm:aff id="aff5"><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>, Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Bonduelle, Maryse" sort="Bonduelle, Maryse" uniqKey="Bonduelle M" first="Maryse" last="Bonduelle">Maryse Bonduelle</name><affiliation><nlm:aff id="aff6"><institution>Center for Medical Genetics</institution>, UZ Brussel,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Boute, Odile" sort="Boute, Odile" uniqKey="Boute O" first="Odile" last="Boute">Odile Boute</name><affiliation><nlm:aff id="aff7"><institution>Center for Clinical Genetics, Hopital Jeanne de Flandre</institution>, Lille,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation><nlm:aff id="aff8"><institution>Department of Medical Genetics, Université Paris Descartes, Necker Enfants Malades Hospital</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="De Die Smulders, Christine" sort="De Die Smulders, Christine" uniqKey="De Die Smulders C" first="Christine" last="De Die-Smulders">Christine De Die-Smulders</name><affiliation><nlm:aff id="aff9"><institution>Department of Clinical Genetics, University Hospital Maastricht</institution>, Maastricht,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Dieux Coeslier, Anne" sort="Dieux Coeslier, Anne" uniqKey="Dieux Coeslier A" first="Anne" last="Dieux-Coeslier">Anne Dieux-Coeslier</name><affiliation><nlm:aff id="aff7"><institution>Center for Clinical Genetics, Hopital Jeanne de Flandre</institution>, Lille,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation><nlm:aff id="aff10"><institution>Centre de reference pour les Affections Rares et Génétique Ophthalmologique (CARGO), Hôpitaux Universitaires de Strasbourg</institution>, Strasbourg,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Elting, Mariet" sort="Elting, Mariet" uniqKey="Elting M" first="Mariet" last="Elting">Mariet Elting</name><affiliation><nlm:aff id="aff11"><institution>Department of Clinical Genetics, VU University Medical Center</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Green, Andrew" sort="Green, Andrew" uniqKey="Green A" first="Andrew" last="Green">Andrew Green</name><affiliation><nlm:aff id="aff12"><institution>National Centre for Medical Genetics Our Lady's Hospital</institution>, Dublin,<country>Ireland</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff13"><institution>University College Dublin School of Medicine and Medical Science</institution>, Dublin,<country>Ireland</country></nlm:aff></affiliation></author><author><name sortKey="Guerci, Veronica I" sort="Guerci, Veronica I" uniqKey="Guerci V" first="Veronica I" last="Guerci">Veronica I. Guerci</name><affiliation><nlm:aff id="aff14"><institution>Metabolic Disease Unit, IRCCS Burlo Garofolo</institution>, Trieste,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C M" last="Hennekam">Raoul C M. Hennekam</name><affiliation><nlm:aff id="aff15"><institution>Clinical and Molecular Genetics Unit, Institute of Child Health, University College London</institution>, London,<country>UK</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff16"><institution>Department of Pediatrics, Academic Medical Center, University of Amsterdam</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Hilhorts Hofstee, Yvonne" sort="Hilhorts Hofstee, Yvonne" uniqKey="Hilhorts Hofstee Y" first="Yvonne" last="Hilhorts-Hofstee">Yvonne Hilhorts-Hofstee</name><affiliation><nlm:aff id="aff17"><institution>Department of Clinical Genetics, Leiden University Medical Center</institution>, Leiden,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Holder, Muriel" sort="Holder, Muriel" uniqKey="Holder M" first="Muriel" last="Holder">Muriel Holder</name><affiliation><nlm:aff id="aff7"><institution>Center for Clinical Genetics, Hopital Jeanne de Flandre</institution>, Lille,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Hoyng, Carel" sort="Hoyng, Carel" uniqKey="Hoyng C" first="Carel" last="Hoyng">Carel Hoyng</name><affiliation><nlm:aff id="aff18"><institution>Department of Ophthalmology, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Jones, Kristi J" sort="Jones, Kristi J" uniqKey="Jones K" first="Kristi J" last="Jones">Kristi J. Jones</name><affiliation><nlm:aff id="aff19"><institution>Western Sydney Genetics Program, The Children's Hospital at Westmead</institution>, Sydney,<country>Australia</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Discipline of Paediatrics and Child Health, University of Sydney</institution>, Sydney,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Josifova, Dragana" sort="Josifova, Dragana" uniqKey="Josifova D" first="Dragana" last="Josifova">Dragana Josifova</name><affiliation><nlm:aff id="aff21"><institution>Department of Clinical Genetics, Guy's Hospital</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Kaitila, Ilkka" sort="Kaitila, Ilkka" uniqKey="Kaitila I" first="Ilkka" last="Kaitila">Ilkka Kaitila</name><affiliation><nlm:aff id="aff22"><institution>Department of Clinical Genetics, Helsinki University Central Hospital</institution>, Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Kjaergaard, Suzanne" sort="Kjaergaard, Suzanne" uniqKey="Kjaergaard S" first="Suzanne" last="Kjaergaard">Suzanne Kjaergaard</name><affiliation><nlm:aff id="aff23"><institution>Department of Clinical Genetics, Rigshospitalet</institution>, Copenhagen,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Kroes, Yolande H" sort="Kroes, Yolande H" uniqKey="Kroes Y" first="Yolande H" last="Kroes">Yolande H. Kroes</name><affiliation><nlm:aff id="aff3"><institution>Center for Medical Genetics</institution>, Utrecht,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Lagerstedt, Kristina" sort="Lagerstedt, Kristina" uniqKey="Lagerstedt K" first="Kristina" last="Lagerstedt">Kristina Lagerstedt</name><affiliation><nlm:aff id="aff5"><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>, Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Lees, Melissa" sort="Lees, Melissa" uniqKey="Lees M" first="Melissa" last="Lees">Melissa Lees</name><affiliation><nlm:aff id="aff15"><institution>Clinical and Molecular Genetics Unit, Institute of Child Health, University College London</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Lemerrer, Martine" sort="Lemerrer, Martine" uniqKey="Lemerrer M" first="Martine" last="Lemerrer">Martine Lemerrer</name><affiliation><nlm:aff id="aff8"><institution>Department of Medical Genetics, Université Paris Descartes, Necker Enfants Malades Hospital</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Magnani, Cinzia" sort="Magnani, Cinzia" uniqKey="Magnani C" first="Cinzia" last="Magnani">Cinzia Magnani</name><affiliation><nlm:aff id="aff24"><institution>Department of Paediatrics, University Hospital of Parma</institution>, Parma,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Marcelis, Carlo" sort="Marcelis, Carlo" uniqKey="Marcelis C" first="Carlo" last="Marcelis">Carlo Marcelis</name><affiliation><nlm:aff id="aff25"><institution>Department of Human Genetics, Radboud University Medical Centre Nijmegen</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Martorell, Loreto" sort="Martorell, Loreto" uniqKey="Martorell L" first="Loreto" last="Martorell">Loreto Martorell</name><affiliation><nlm:aff id="aff26"><institution>Department of Genetics, Hospital Sant Joan de Déu</institution>, Barcelona,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Mathieu, Michele" sort="Mathieu, Michele" uniqKey="Mathieu M" first="Michèle" last="Mathieu">Michèle Mathieu</name><affiliation><nlm:aff id="aff27"><institution>Clinical Genetics, CHU Nord</institution>, Amiens,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Mcentagart, Meriel" sort="Mcentagart, Meriel" uniqKey="Mcentagart M" first="Meriel" last="Mcentagart">Meriel Mcentagart</name><affiliation><nlm:aff id="aff28"><institution>Clinical Genetics, St George's University of London</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mendicino, Angela" sort="Mendicino, Angela" uniqKey="Mendicino A" first="Angela" last="Mendicino">Angela Mendicino</name><affiliation><nlm:aff id="aff29"><institution>U.O.S. di Genetica, DTMI, ASL RME</institution>, Roma,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Morton, Jenny" sort="Morton, Jenny" uniqKey="Morton J" first="Jenny" last="Morton">Jenny Morton</name><affiliation><nlm:aff id="aff30"><institution>Clinical Genetics Unit, Birmingham Women's Hospital</institution>, Birmingham,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Orazio, Gabrielli" sort="Orazio, Gabrielli" uniqKey="Orazio G" first="Gabrielli" last="Orazio">Gabrielli Orazio</name><affiliation><nlm:aff id="aff31"><institution>Department of Clinical Genetics, Ospedale G. Salesi</institution>, Ancona,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Paquis, Veronique" sort="Paquis, Veronique" uniqKey="Paquis V" first="Véronique" last="Paquis">Véronique Paquis</name><affiliation><nlm:aff id="aff32"><institution>Department of Clinical Genetics, Hopital de L'Arghet</institution>, Nice,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Reish, Orit" sort="Reish, Orit" uniqKey="Reish O" first="Orit" last="Reish">Orit Reish</name><affiliation><nlm:aff id="aff33"><institution>Genetics Institute, Assaf Harofeh Medical Center</institution>, Zerifin,<country>Israel</country></nlm:aff></affiliation></author><author><name sortKey="Simola, Kalle O J" sort="Simola, Kalle O J" uniqKey="Simola K" first="Kalle O J" last="Simola">Kalle O J. Simola</name><affiliation><nlm:aff id="aff34"><institution>Department of Pediatrics, Tampere University Hospital</institution>, Tampere,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Smithson, Sarah F" sort="Smithson, Sarah F" uniqKey="Smithson S" first="Sarah F" last="Smithson">Sarah F. Smithson</name><affiliation><nlm:aff id="aff35"><institution>Department for Clinical Genetics, St Michael's Hospital</institution>, Bristol,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Temple, Karen I" sort="Temple, Karen I" uniqKey="Temple K" first="Karen I" last="Temple">Karen I. Temple</name><affiliation><nlm:aff id="aff36"><institution>Academic Unit of Genetic Medicine, Division of Human Genetics, University of Southampton</institution>, Southampton,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Van Aken, Elisabeth" sort="Van Aken, Elisabeth" uniqKey="Van Aken E" first="Elisabeth" last="Van Aken">Elisabeth Van Aken</name><affiliation><nlm:aff id="aff37"><institution>Department of Ophthalmology, Ghent University Hospital</institution>, Gent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Van Bever, Yolande" sort="Van Bever, Yolande" uniqKey="Van Bever Y" first="Yolande" last="Van Bever">Yolande Van Bever</name><affiliation><nlm:aff id="aff38"><institution>Department of Clinical Genetics, Erasmus MC</institution>, Rotterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Den Ende, Jenneke" sort="Van Den Ende, Jenneke" uniqKey="Van Den Ende J" first="Jenneke" last="Van Den Ende">Jenneke Van Den Ende</name><affiliation><nlm:aff id="aff39"><institution>Center for Medical Genetics, University Hospital</institution>, Antwerp,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Van Hagen, Johanna M" sort="Van Hagen, Johanna M" uniqKey="Van Hagen J" first="Johanna M" last="Van Hagen">Johanna M. Van Hagen</name><affiliation><nlm:aff id="aff40"><institution>Department of Clinical Genetics, University Medical Center</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Zelante, Leopoldo" sort="Zelante, Leopoldo" uniqKey="Zelante L" first="Leopoldo" last="Zelante">Leopoldo Zelante</name><affiliation><nlm:aff id="aff41"><institution>Medical Genetics Service, IRCCS Casa Sollievo della Sofferenza</institution>, San Giovanni Rotondo,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Zordania, Riina" sort="Zordania, Riina" uniqKey="Zordania R" first="Riina" last="Zordania">Riina Zordania</name><affiliation><nlm:aff id="aff42"><institution>Clinical Genetics, Tallinn Children's Hospital</institution>, Tallinn,<country>Estonia</country></nlm:aff></affiliation></author><author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Leroy, Bart P" sort="Leroy, Bart P" uniqKey="Leroy B" first="Bart P" last="Leroy">Bart P. Leroy</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff37"><institution>Department of Ophthalmology, Ghent University Hospital</institution>, Gent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="De Buyzere, Marc" sort="De Buyzere, Marc" uniqKey="De Buyzere M" first="Marc" last="De Buyzere">Marc De Buyzere</name><affiliation><nlm:aff id="aff43"><institution>Heart Center, Ghent University Hospital</institution>, Gent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Coucke, Paul J" sort="Coucke, Paul J" uniqKey="Coucke P" first="Paul J" last="Coucke">Paul J. Coucke</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R" last="Mortier">Geert R. Mortier</name><affiliation><nlm:aff id="aff1"><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></nlm:aff></affiliation></author></analytic><series><title level="j">European Journal of Human Genetics</title><idno type="ISSN">1018-4813</idno><idno type="eISSN">1476-5438</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in <italic>COL2A1</italic>. In 188 probands with the clinical diagnosis of Stickler syndrome, the <italic>COL2A1</italic> gene was analyzed by either a mutation scanning technique or bidirectional fluorescent DNA sequencing. The effect of splice site alterations was investigated by analyzing mRNA. Multiplex ligation-dependent amplification analysis was used for the detection of intragenic deletions. We identified 77 different <italic>COL2A1</italic> mutations in 100 affected individuals. Analysis of the splice site mutations showed unusual RNA isoforms, most of which contained a premature stop codon. Vitreous anomalies and retinal detachments were found more frequently in patients with a <italic>COL2A1</italic> mutation compared with the mutation-negative group (<italic>P</italic><0.01). Overall, 20 of 23 sporadic patients with a <italic>COL2A1</italic> mutation had either a cleft palate or retinal detachment with vitreous anomalies. The presence of vitreous anomalies, retinal tears or detachments, cleft palate and a positive family history were shown to be good indicators for a <italic>COL2A1</italic> defect. In conclusion, we confirm that Stickler syndrome type 1 is predominantly caused by loss-of-function mutations in the <italic>COL2A1</italic> gene as >90% of the mutations were predicted to result in nonsense-mediated decay. On the basis of binary regression analysis, we developed a scoring system that may be useful when evaluating patients with Stickler syndrome.</p></div></front></TEI><pmc article-type="research-article"><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">Eur J Hum Genet</journal-id><journal-title-group><journal-title>European Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">1018-4813</issn><issn pub-type="epub">1476-5438</issn><publisher><publisher-name>Nature Publishing Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">20179744</article-id><article-id pub-id-type="pmc">2987380</article-id><article-id pub-id-type="pii">ejhg201023</article-id><article-id pub-id-type="doi">10.1038/ejhg.2010.23</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Stickler syndrome caused by <italic>COL2A1</italic> mutations: genotype–phenotype correlation in a series of 100 patients</article-title><alt-title alt-title-type="running">Stickler syndrome caused by <italic>COL2A1</italic> mutations</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Hoornaert</surname><given-names>Kristien P</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Vereecke</surname><given-names>Inge</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Dewinter</surname><given-names>Chantal</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Rosenberg</surname><given-names>Thomas</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Beemer</surname><given-names>Frits A</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Leroy</surname><given-names>Jules G</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Bendix</surname><given-names>Laila</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Björck</surname><given-names>Erik</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Bonduelle</surname><given-names>Maryse</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Boute</surname><given-names>Odile</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Cormier-Daire</surname><given-names>Valerie</given-names></name><xref ref-type="aff" rid="aff8">8</xref></contrib><contrib contrib-type="author"><name><surname>De Die-Smulders</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="aff9">9</xref></contrib><contrib contrib-type="author"><name><surname>Dieux-Coeslier</surname><given-names>Anne</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Dollfus</surname><given-names>Hélène</given-names></name><xref ref-type="aff" rid="aff10">10</xref></contrib><contrib contrib-type="author"><name><surname>Elting</surname><given-names>Mariet</given-names></name><xref ref-type="aff" rid="aff11">11</xref></contrib><contrib contrib-type="author"><name><surname>Green</surname><given-names>Andrew</given-names></name><xref ref-type="aff" rid="aff12">12</xref><xref ref-type="aff" rid="aff13">13</xref></contrib><contrib contrib-type="author"><name><surname>Guerci</surname><given-names>Veronica I</given-names></name><xref ref-type="aff" rid="aff14">14</xref></contrib><contrib contrib-type="author"><name><surname>Hennekam</surname><given-names>Raoul C M</given-names></name><xref ref-type="aff" rid="aff15">15</xref><xref ref-type="aff" rid="aff16">16</xref></contrib><contrib contrib-type="author"><name><surname>Hilhorts-Hofstee</surname><given-names>Yvonne</given-names></name><xref ref-type="aff" rid="aff17">17</xref></contrib><contrib contrib-type="author"><name><surname>Holder</surname><given-names>Muriel</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Hoyng</surname><given-names>Carel</given-names></name><xref ref-type="aff" rid="aff18">18</xref></contrib><contrib contrib-type="author"><name><surname>Jones</surname><given-names>Kristi J</given-names></name><xref ref-type="aff" rid="aff19">19</xref><xref ref-type="aff" rid="aff20">20</xref></contrib><contrib contrib-type="author"><name><surname>Josifova</surname><given-names>Dragana</given-names></name><xref ref-type="aff" rid="aff21">21</xref></contrib><contrib contrib-type="author"><name><surname>Kaitila</surname><given-names>Ilkka</given-names></name><xref ref-type="aff" rid="aff22">22</xref></contrib><contrib contrib-type="author"><name><surname>Kjaergaard</surname><given-names>Suzanne</given-names></name><xref ref-type="aff" rid="aff23">23</xref></contrib><contrib contrib-type="author"><name><surname>Kroes</surname><given-names>Yolande H</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Lagerstedt</surname><given-names>Kristina</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Lees</surname><given-names>Melissa</given-names></name><xref ref-type="aff" rid="aff15">15</xref></contrib><contrib contrib-type="author"><name><surname>LeMerrer</surname><given-names>Martine</given-names></name><xref ref-type="aff" rid="aff8">8</xref></contrib><contrib contrib-type="author"><name><surname>Magnani</surname><given-names>Cinzia</given-names></name><xref ref-type="aff" rid="aff24">24</xref></contrib><contrib contrib-type="author"><name><surname>Marcelis</surname><given-names>Carlo</given-names></name><xref ref-type="aff" rid="aff25">25</xref></contrib><contrib contrib-type="author"><name><surname>Martorell</surname><given-names>Loreto</given-names></name><xref ref-type="aff" rid="aff26">26</xref></contrib><contrib contrib-type="author"><name><surname>Mathieu</surname><given-names>Michèle</given-names></name><xref ref-type="aff" rid="aff27">27</xref></contrib><contrib contrib-type="author"><name><surname>McEntagart</surname><given-names>Meriel</given-names></name><xref ref-type="aff" rid="aff28">28</xref></contrib><contrib contrib-type="author"><name><surname>Mendicino</surname><given-names>Angela</given-names></name><xref ref-type="aff" rid="aff29">29</xref></contrib><contrib contrib-type="author"><name><surname>Morton</surname><given-names>Jenny</given-names></name><xref ref-type="aff" rid="aff30">30</xref></contrib><contrib contrib-type="author"><name><surname>Orazio</surname><given-names>Gabrielli</given-names></name><xref ref-type="aff" rid="aff31">31</xref></contrib><contrib contrib-type="author"><name><surname>Paquis</surname><given-names>Véronique</given-names></name><xref ref-type="aff" rid="aff32">32</xref></contrib><contrib contrib-type="author"><name><surname>Reish</surname><given-names>Orit</given-names></name><xref ref-type="aff" rid="aff33">33</xref></contrib><contrib contrib-type="author"><name><surname>Simola</surname><given-names>Kalle O J</given-names></name><xref ref-type="aff" rid="aff34">34</xref></contrib><contrib contrib-type="author"><name><surname>Smithson</surname><given-names>Sarah F</given-names></name><xref ref-type="aff" rid="aff35">35</xref></contrib><contrib contrib-type="author"><name><surname>Temple</surname><given-names>Karen I</given-names></name><xref ref-type="aff" rid="aff36">36</xref></contrib><contrib contrib-type="author"><name><surname>Van Aken</surname><given-names>Elisabeth</given-names></name><xref ref-type="aff" rid="aff37">37</xref></contrib><contrib contrib-type="author"><name><surname>Van Bever</surname><given-names>Yolande</given-names></name><xref ref-type="aff" rid="aff38">38</xref></contrib><contrib contrib-type="author"><name><surname>van den Ende</surname><given-names>Jenneke</given-names></name><xref ref-type="aff" rid="aff39">39</xref></contrib><contrib contrib-type="author"><name><surname>Van Hagen</surname><given-names>Johanna M</given-names></name><xref ref-type="aff" rid="aff40">40</xref></contrib><contrib contrib-type="author"><name><surname>Zelante</surname><given-names>Leopoldo</given-names></name><xref ref-type="aff" rid="aff41">41</xref></contrib><contrib contrib-type="author"><name><surname>Zordania</surname><given-names>Riina</given-names></name><xref ref-type="aff" rid="aff42">42</xref></contrib><contrib contrib-type="author"><name><surname>De Paepe</surname><given-names>Anne</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Leroy</surname><given-names>Bart P</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff37">37</xref></contrib><contrib contrib-type="author"><name><surname>De Buyzere</surname><given-names>Marc</given-names></name><xref ref-type="aff" rid="aff43">43</xref></contrib><contrib contrib-type="author"><name><surname>Coucke</surname><given-names>Paul J</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Mortier</surname><given-names>Geert R</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="corresp" rid="caf1">*</xref></contrib><aff id="aff1"><label>1</label><institution>Department of Medical Genetics, Antwerp University Hospital, Prins Boudewijnlaan</institution>,<country>Belgium</country></aff><aff id="aff2"><label>2</label><institution>National Eye Clinic, Gordon Norrie Centre for Genetic Eye Diseases</institution>, Hellerup,<country>Denmark</country></aff><aff id="aff3"><label>3</label><institution>Center for Medical Genetics</institution>, Utrecht,<country>The Netherlands</country></aff><aff id="aff4"><label>4</label><institution>Department of Clinical Genetics, University of Southern Denmark, Vejle Hospital</institution>, Vejle,<country>Denmark</country></aff><aff id="aff5"><label>5</label><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>, Stockholm,<country>Sweden</country></aff><aff id="aff6"><label>6</label><institution>Center for Medical Genetics</institution>, UZ Brussel,<country>Belgium</country></aff><aff id="aff7"><label>7</label><institution>Center for Clinical Genetics, Hopital Jeanne de Flandre</institution>, Lille,<country>France</country></aff><aff id="aff8"><label>8</label><institution>Department of Medical Genetics, Université Paris Descartes, Necker Enfants Malades Hospital</institution>, Paris,<country>France</country></aff><aff id="aff9"><label>9</label><institution>Department of Clinical Genetics, University Hospital Maastricht</institution>, Maastricht,<country>The Netherlands</country></aff><aff id="aff10"><label>10</label><institution>Centre de reference pour les Affections Rares et Génétique Ophthalmologique (CARGO), Hôpitaux Universitaires de Strasbourg</institution>, Strasbourg,<country>France</country></aff><aff id="aff11"><label>11</label><institution>Department of Clinical Genetics, VU University Medical Center</institution>, Amsterdam,<country>The Netherlands</country></aff><aff id="aff12"><label>12</label><institution>National Centre for Medical Genetics Our Lady's Hospital</institution>, Dublin,<country>Ireland</country></aff><aff id="aff13"><label>13</label><institution>University College Dublin School of Medicine and Medical Science</institution>, Dublin,<country>Ireland</country></aff><aff id="aff14"><label>14</label><institution>Metabolic Disease Unit, IRCCS Burlo Garofolo</institution>, Trieste,<country>Italy</country></aff><aff id="aff15"><label>15</label><institution>Clinical and Molecular Genetics Unit, Institute of Child Health, University College London</institution>, London,<country>UK</country></aff><aff id="aff16"><label>16</label><institution>Department of Pediatrics, Academic Medical Center, University of Amsterdam</institution>, Amsterdam,<country>The Netherlands</country></aff><aff id="aff17"><label>17</label><institution>Department of Clinical Genetics, Leiden University Medical Center</institution>, Leiden,<country>The Netherlands</country></aff><aff id="aff18"><label>18</label><institution>Department of Ophthalmology, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></aff><aff id="aff19"><label>19</label><institution>Western Sydney Genetics Program, The Children's Hospital at Westmead</institution>, Sydney,<country>Australia</country></aff><aff id="aff20"><label>20</label><institution>Discipline of Paediatrics and Child Health, University of Sydney</institution>, Sydney,<country>Australia</country></aff><aff id="aff21"><label>21</label><institution>Department of Clinical Genetics, Guy's Hospital</institution>, London,<country>UK</country></aff><aff id="aff22"><label>22</label><institution>Department of Clinical Genetics, Helsinki University Central Hospital</institution>, Helsinki,<country>Finland</country></aff><aff id="aff23"><label>23</label><institution>Department of Clinical Genetics, Rigshospitalet</institution>, Copenhagen,<country>Denmark</country></aff><aff id="aff24"><label>24</label><institution>Department of Paediatrics, University Hospital of Parma</institution>, Parma,<country>Italy</country></aff><aff id="aff25"><label>25</label><institution>Department of Human Genetics, Radboud University Medical Centre Nijmegen</institution>, Nijmegen,<country>The Netherlands</country></aff><aff id="aff26"><label>26</label><institution>Department of Genetics, Hospital Sant Joan de Déu</institution>, Barcelona,<country>Spain</country></aff><aff id="aff27"><label>27</label><institution>Clinical Genetics, CHU Nord</institution>, Amiens,<country>France</country></aff><aff id="aff28"><label>28</label><institution>Clinical Genetics, St George's University of London</institution>, London,<country>UK</country></aff><aff id="aff29"><label>29</label><institution>U.O.S. di Genetica, DTMI, ASL RME</institution>, Roma,<country>Italy</country></aff><aff id="aff30"><label>30</label><institution>Clinical Genetics Unit, Birmingham Women's Hospital</institution>, Birmingham,<country>UK</country></aff><aff id="aff31"><label>31</label><institution>Department of Clinical Genetics, Ospedale G. Salesi</institution>, Ancona,<country>Italy</country></aff><aff id="aff32"><label>32</label><institution>Department of Clinical Genetics, Hopital de L'Arghet</institution>, Nice,<country>France</country></aff><aff id="aff33"><label>33</label><institution>Genetics Institute, Assaf Harofeh Medical Center</institution>, Zerifin,<country>Israel</country></aff><aff id="aff34"><label>34</label><institution>Department of Pediatrics, Tampere University Hospital</institution>, Tampere,<country>Finland</country></aff><aff id="aff35"><label>35</label><institution>Department for Clinical Genetics, St Michael's Hospital</institution>, Bristol,<country>UK</country></aff><aff id="aff36"><label>36</label><institution>Academic Unit of Genetic Medicine, Division of Human Genetics, University of Southampton</institution>, Southampton,<country>UK</country></aff><aff id="aff37"><label>37</label><institution>Department of Ophthalmology, Ghent University Hospital</institution>, Gent,<country>Belgium</country></aff><aff id="aff38"><label>38</label><institution>Department of Clinical Genetics, Erasmus MC</institution>, Rotterdam,<country>The Netherlands</country></aff><aff id="aff39"><label>39</label><institution>Center for Medical Genetics, University Hospital</institution>, Antwerp,<country>Belgium</country></aff><aff id="aff40"><label>40</label><institution>Department of Clinical Genetics, University Medical Center</institution>, Amsterdam,<country>The Netherlands</country></aff><aff id="aff41"><label>41</label><institution>Medical Genetics Service, IRCCS Casa Sollievo della Sofferenza</institution>, San Giovanni Rotondo,<country>Italy</country></aff><aff id="aff42"><label>42</label><institution>Clinical Genetics, Tallinn Children's Hospital</institution>, Tallinn,<country>Estonia</country></aff><aff id="aff43"><label>43</label><institution>Heart Center, Ghent University Hospital</institution>, Gent,<country>Belgium</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label><institution>Department of Medical Genetics, Antwerp University Hospital</institution>, Prins Boudewijnlaan 43, B-2650 Edegem, <country>Belgium</country>. Tel: +32 9 332 36 03; Fax: +32 9 332 49 70; E-mail: <email>geert.mortier@ua.ac.be</email></corresp></author-notes><pub-date pub-type="ppub"><month>08</month><year>2010</year></pub-date><pub-date pub-type="epub"><day>24</day><month>02</month><year>2010</year></pub-date><volume>18</volume><issue>8</issue><fpage>872</fpage><lpage>880</lpage><history><date date-type="received"><day>11</day><month>08</month><year>2009</year></date><date date-type="rev-recd"><day>03</day><month>12</month><year>2009</year></date><date date-type="accepted"><day>26</day><month>01</month><year>2010</year></date></history><permissions><copyright-statement>Copyright © 2010 Macmillan Publishers Limited</copyright-statement><copyright-year>2010</copyright-year><copyright-holder>Macmillan Publishers Limited</copyright-holder></permissions><abstract><p>Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in <italic>COL2A1</italic>. In 188 probands with the clinical diagnosis of Stickler syndrome, the <italic>COL2A1</italic> gene was analyzed by either a mutation scanning technique or bidirectional fluorescent DNA sequencing. The effect of splice site alterations was investigated by analyzing mRNA. Multiplex ligation-dependent amplification analysis was used for the detection of intragenic deletions. We identified 77 different <italic>COL2A1</italic> mutations in 100 affected individuals. Analysis of the splice site mutations showed unusual RNA isoforms, most of which contained a premature stop codon. Vitreous anomalies and retinal detachments were found more frequently in patients with a <italic>COL2A1</italic> mutation compared with the mutation-negative group (<italic>P</italic><0.01). Overall, 20 of 23 sporadic patients with a <italic>COL2A1</italic> mutation had either a cleft palate or retinal detachment with vitreous anomalies. The presence of vitreous anomalies, retinal tears or detachments, cleft palate and a positive family history were shown to be good indicators for a <italic>COL2A1</italic> defect. In conclusion, we confirm that Stickler syndrome type 1 is predominantly caused by loss-of-function mutations in the <italic>COL2A1</italic> gene as >90% of the mutations were predicted to result in nonsense-mediated decay. On the basis of binary regression analysis, we developed a scoring system that may be useful when evaluating patients with Stickler syndrome.</p></abstract><kwd-group><kwd><italic>COL2A1</italic></kwd><kwd>Stickler syndrome</kwd><kwd>genotype–phenotype correlation</kwd><kwd>type II collagenopathies</kwd><kwd>splice site mutation</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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