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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Homozygous and Compound-Heterozygous Mutations in <italic>TGDS</italic> Cause Catel-Manzke Syndrome</title><author><name sortKey="Ehmke, Nadja" sort="Ehmke, Nadja" uniqKey="Ehmke N" first="Nadja" last="Ehmke">Nadja Ehmke</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Caliebe, Almuth" sort="Caliebe, Almuth" uniqKey="Caliebe A" first="Almuth" last="Caliebe">Almuth Caliebe</name><affiliation><nlm:aff id="aff3">Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Koenig, Rainer" sort="Koenig, Rainer" uniqKey="Koenig R" first="Rainer" last="Koenig">Rainer Koenig</name><affiliation><nlm:aff id="aff4">Institute of Human Genetics, Goethe-University Frankfurt, 60590 Frankfurt am Main, Germany</nlm:aff></affiliation></author><author><name sortKey="Kant, Sarina G" sort="Kant, Sarina G" uniqKey="Kant S" first="Sarina G." last="Kant">Sarina G. Kant</name><affiliation><nlm:aff id="aff5">Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Stark, Zornitza" sort="Stark, Zornitza" uniqKey="Stark Z" first="Zornitza" last="Stark">Zornitza Stark</name><affiliation><nlm:aff id="aff6">Victorian Clinical Genetics Service, Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia</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="aff7">Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation><nlm:aff id="aff8">Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany</nlm:aff></affiliation></author><author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name><affiliation><nlm:aff id="aff9">Institut für Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany</nlm:aff></affiliation></author><author><name sortKey="Hoff, Kirstin" sort="Hoff, Kirstin" uniqKey="Hoff K" first="Kirstin" last="Hoff">Kirstin Hoff</name><affiliation><nlm:aff id="aff3">Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Department of Congenital Heart Disease and Pediatric Cardiology, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, 24105 Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Kawalia, Amit" sort="Kawalia, Amit" uniqKey="Kawalia A" first="Amit" last="Kawalia">Amit Kawalia</name><affiliation><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Thiele, Holger" sort="Thiele, Holger" uniqKey="Thiele H" first="Holger" last="Thiele">Holger Thiele</name><affiliation><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Altmuller, Janine" sort="Altmuller, Janine" uniqKey="Altmuller J" first="Janine" last="Altmüller">Janine Altmüller</name><affiliation><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Fischer Zirnsak, Bjorn" sort="Fischer Zirnsak, Bjorn" uniqKey="Fischer Zirnsak B" first="Björn" last="Fischer-Zirnsak">Björn Fischer-Zirnsak</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Knaus, Alexej" sort="Knaus, Alexej" uniqKey="Knaus A" first="Alexej" last="Knaus">Alexej Knaus</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Zhu, Na" sort="Zhu, Na" uniqKey="Zhu N" first="Na" last="Zhu">Na Zhu</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Heinrich, Verena" sort="Heinrich, Verena" uniqKey="Heinrich V" first="Verena" last="Heinrich">Verena Heinrich</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Celine" last="Huber">Celine Huber</name><affiliation><nlm:aff id="aff7">Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Harabula, Izabela" sort="Harabula, Izabela" uniqKey="Harabula I" first="Izabela" last="Harabula">Izabela Harabula</name><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Spielmann, Malte" sort="Spielmann, Malte" uniqKey="Spielmann M" first="Malte" last="Spielmann">Malte Spielmann</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Horn, Denise" sort="Horn, Denise" uniqKey="Horn D" first="Denise" last="Horn">Denise Horn</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Kornak, Uwe" sort="Kornak, Uwe" uniqKey="Kornak U" first="Uwe" last="Kornak">Uwe Kornak</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Hecht, Jochen" sort="Hecht, Jochen" uniqKey="Hecht J" first="Jochen" last="Hecht">Jochen Hecht</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Krawitz, Peter M" sort="Krawitz, Peter M" uniqKey="Krawitz P" first="Peter M." last="Krawitz">Peter M. Krawitz</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><affiliation><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff16">Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name><affiliation><nlm:aff id="aff3">Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Manzke, Hermann" sort="Manzke, Hermann" uniqKey="Manzke H" first="Hermann" last="Manzke">Hermann Manzke</name><affiliation><nlm:aff id="aff17">Private, 24226 Heikendorf, Germany</nlm:aff></affiliation></author><author><name sortKey="Mundlos, Stefan" sort="Mundlos, Stefan" uniqKey="Mundlos S" first="Stefan" last="Mundlos">Stefan Mundlos</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25480037</idno><idno type="pmc">4259972</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972</idno><idno type="RBID">PMC:4259972</idno><idno type="doi">10.1016/j.ajhg.2014.11.004</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001211</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001211</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Homozygous and Compound-Heterozygous Mutations in <italic>TGDS</italic> Cause Catel-Manzke Syndrome</title><author><name sortKey="Ehmke, Nadja" sort="Ehmke, Nadja" uniqKey="Ehmke N" first="Nadja" last="Ehmke">Nadja Ehmke</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Caliebe, Almuth" sort="Caliebe, Almuth" uniqKey="Caliebe A" first="Almuth" last="Caliebe">Almuth Caliebe</name><affiliation><nlm:aff id="aff3">Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Koenig, Rainer" sort="Koenig, Rainer" uniqKey="Koenig R" first="Rainer" last="Koenig">Rainer Koenig</name><affiliation><nlm:aff id="aff4">Institute of Human Genetics, Goethe-University Frankfurt, 60590 Frankfurt am Main, Germany</nlm:aff></affiliation></author><author><name sortKey="Kant, Sarina G" sort="Kant, Sarina G" uniqKey="Kant S" first="Sarina G." last="Kant">Sarina G. Kant</name><affiliation><nlm:aff id="aff5">Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Stark, Zornitza" sort="Stark, Zornitza" uniqKey="Stark Z" first="Zornitza" last="Stark">Zornitza Stark</name><affiliation><nlm:aff id="aff6">Victorian Clinical Genetics Service, Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia</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="aff7">Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation><nlm:aff id="aff8">Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany</nlm:aff></affiliation></author><author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name><affiliation><nlm:aff id="aff9">Institut für Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany</nlm:aff></affiliation></author><author><name sortKey="Hoff, Kirstin" sort="Hoff, Kirstin" uniqKey="Hoff K" first="Kirstin" last="Hoff">Kirstin Hoff</name><affiliation><nlm:aff id="aff3">Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Department of Congenital Heart Disease and Pediatric Cardiology, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, 24105 Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Kawalia, Amit" sort="Kawalia, Amit" uniqKey="Kawalia A" first="Amit" last="Kawalia">Amit Kawalia</name><affiliation><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Thiele, Holger" sort="Thiele, Holger" uniqKey="Thiele H" first="Holger" last="Thiele">Holger Thiele</name><affiliation><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Altmuller, Janine" sort="Altmuller, Janine" uniqKey="Altmuller J" first="Janine" last="Altmüller">Janine Altmüller</name><affiliation><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Fischer Zirnsak, Bjorn" sort="Fischer Zirnsak, Bjorn" uniqKey="Fischer Zirnsak B" first="Björn" last="Fischer-Zirnsak">Björn Fischer-Zirnsak</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Knaus, Alexej" sort="Knaus, Alexej" uniqKey="Knaus A" first="Alexej" last="Knaus">Alexej Knaus</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Zhu, Na" sort="Zhu, Na" uniqKey="Zhu N" first="Na" last="Zhu">Na Zhu</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Heinrich, Verena" sort="Heinrich, Verena" uniqKey="Heinrich V" first="Verena" last="Heinrich">Verena Heinrich</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Celine" last="Huber">Celine Huber</name><affiliation><nlm:aff id="aff7">Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Harabula, Izabela" sort="Harabula, Izabela" uniqKey="Harabula I" first="Izabela" last="Harabula">Izabela Harabula</name><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Spielmann, Malte" sort="Spielmann, Malte" uniqKey="Spielmann M" first="Malte" last="Spielmann">Malte Spielmann</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Horn, Denise" sort="Horn, Denise" uniqKey="Horn D" first="Denise" last="Horn">Denise Horn</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Kornak, Uwe" sort="Kornak, Uwe" uniqKey="Kornak U" first="Uwe" last="Kornak">Uwe Kornak</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Hecht, Jochen" sort="Hecht, Jochen" uniqKey="Hecht J" first="Jochen" last="Hecht">Jochen Hecht</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Krawitz, Peter M" sort="Krawitz, Peter M" uniqKey="Krawitz P" first="Peter M." last="Krawitz">Peter M. Krawitz</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><affiliation><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff16">Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name><affiliation><nlm:aff id="aff3">Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Manzke, Hermann" sort="Manzke, Hermann" uniqKey="Manzke H" first="Hermann" last="Manzke">Hermann Manzke</name><affiliation><nlm:aff id="aff17">Private, 24226 Heikendorf, Germany</nlm:aff></affiliation></author><author><name sortKey="Mundlos, Stefan" sort="Mundlos, Stefan" uniqKey="Mundlos S" first="Stefan" last="Mundlos">Stefan Mundlos</name><affiliation><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</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="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in <italic>TGDS</italic> in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different <italic>TGDS</italic> mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs<sup>∗</sup>22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome. TGDS (dTDP-D-glucose 4,6-dehydrogenase) is a conserved protein belonging to the SDR family and probably plays a role in nucleotide sugar metabolism.</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">25480037</article-id><article-id pub-id-type="pmc">4259972</article-id><article-id pub-id-type="publisher-id">S0002-9297(14)00470-4</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2014.11.004</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Homozygous and Compound-Heterozygous Mutations in <italic>TGDS</italic> Cause Catel-Manzke Syndrome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Ehmke</surname><given-names>Nadja</given-names></name><email>nadja.ehmke@charite.de</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">18</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib><contrib contrib-type="author"><name><surname>Caliebe</surname><given-names>Almuth</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">18</xref></contrib><contrib contrib-type="author"><name><surname>Koenig</surname><given-names>Rainer</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Kant</surname><given-names>Sarina G.</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Stark</surname><given-names>Zornitza</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Cormier-Daire</surname><given-names>Valérie</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Wieczorek</surname><given-names>Dagmar</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Gillessen-Kaesbach</surname><given-names>Gabriele</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Hoff</surname><given-names>Kirstin</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff10" ref-type="aff">10</xref><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Kawalia</surname><given-names>Amit</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Thiele</surname><given-names>Holger</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Altmüller</surname><given-names>Janine</given-names></name><xref rid="aff12" ref-type="aff">12</xref><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Fischer-Zirnsak</surname><given-names>Björn</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Knaus</surname><given-names>Alexej</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Zhu</surname><given-names>Na</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Heinrich</surname><given-names>Verena</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Huber</surname><given-names>Celine</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Harabula</surname><given-names>Izabela</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Spielmann</surname><given-names>Malte</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Horn</surname><given-names>Denise</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Kornak</surname><given-names>Uwe</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Hecht</surname><given-names>Jochen</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Krawitz</surname><given-names>Peter M.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Nürnberg</surname><given-names>Peter</given-names></name><xref rid="aff12" ref-type="aff">12</xref><xref rid="aff15" ref-type="aff">15</xref><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Siebert</surname><given-names>Reiner</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Manzke</surname><given-names>Hermann</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Mundlos</surname><given-names>Stefan</given-names></name><email>stefan.mundlos@charite.de</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff14" ref-type="aff">14</xref><xref rid="cor2" ref-type="corresp">∗∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</aff><aff id="aff2"><label>2</label>Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</aff><aff id="aff3"><label>3</label>Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</aff><aff id="aff4"><label>4</label>Institute of Human Genetics, Goethe-University Frankfurt, 60590 Frankfurt am Main, Germany</aff><aff id="aff5"><label>5</label>Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</aff><aff id="aff6"><label>6</label>Victorian Clinical Genetics Service, Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia</aff><aff id="aff7"><label>7</label>Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris, France</aff><aff id="aff8"><label>8</label>Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany</aff><aff id="aff9"><label>9</label>Institut für Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany</aff><aff id="aff10"><label>10</label>Department of Congenital Heart Disease and Pediatric Cardiology, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</aff><aff id="aff11"><label>11</label>DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, 24105 Kiel, Germany</aff><aff id="aff12"><label>12</label>Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</aff><aff id="aff13"><label>13</label>Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany</aff><aff id="aff14"><label>14</label>Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</aff><aff id="aff15"><label>15</label>Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany</aff><aff id="aff16"><label>16</label>Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany</aff><aff id="aff17"><label>17</label>Private, 24226 Heikendorf, Germany</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>nadja.ehmke@charite.de</email></corresp><corresp id="cor2"><label>∗∗</label>Corresponding author <email>stefan.mundlos@charite.de</email></corresp><fn id="fn1"><label>18</label><p>These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>04</day><month>12</month><year>2014</year></pub-date><volume>95</volume><issue>6</issue><fpage>763</fpage><lpage>770</lpage><history><date date-type="received"><day>22</day><month>9</month><year>2014</year></date><date date-type="accepted"><day>10</day><month>11</month><year>2014</year></date></history><permissions><copyright-statement>© 2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2014</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in <italic>TGDS</italic> in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different <italic>TGDS</italic> mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs<sup>∗</sup>22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome. TGDS (dTDP-D-glucose 4,6-dehydrogenase) is a conserved protein belonging to the SDR family and probably plays a role in nucleotide sugar metabolism.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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