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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>PIEZO2</italic> Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5</title><author><name sortKey="Mcmillin, Margaret J" sort="Mcmillin, Margaret J" uniqKey="Mcmillin M" first="Margaret J." last="Mcmillin">Margaret J. Mcmillin</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Beck, Anita E" sort="Beck, Anita E" uniqKey="Beck A" first="Anita E." last="Beck">Anita E. Beck</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Chong, Jessica X" sort="Chong, Jessica X" uniqKey="Chong J" first="Jessica X." last="Chong">Jessica X. Chong</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Shively, Kathryn M" sort="Shively, Kathryn M" uniqKey="Shively K" first="Kathryn M." last="Shively">Kathryn M. Shively</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Buckingham, Kati J" sort="Buckingham, Kati J" uniqKey="Buckingham K" first="Kati J." last="Buckingham">Kati J. Buckingham</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Gildersleeve, Heidi I S" sort="Gildersleeve, Heidi I S" uniqKey="Gildersleeve H" first="Heidi I. S." last="Gildersleeve">Heidi I. S. Gildersleeve</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Aracena, Mariana I" sort="Aracena, Mariana I" uniqKey="Aracena M" first="Mariana I." last="Aracena">Mariana I. Aracena</name><affiliation><nlm:aff id="aff3">Genetic Unit, Hospital Dr. Luis Calvo Mackenna, Santiago 7500539, Chile</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Division of Pediatrics, Pontificia Universidad Católica de Chile, Santiago 8330074, Chile</nlm:aff></affiliation></author><author><name sortKey="Aylsworth, Arthur S" sort="Aylsworth, Arthur S" uniqKey="Aylsworth A" first="Arthur S." last="Aylsworth">Arthur S. Aylsworth</name><affiliation><nlm:aff id="aff5">Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Bitoun, Pierre" sort="Bitoun, Pierre" uniqKey="Bitoun P" first="Pierre" last="Bitoun">Pierre Bitoun</name><affiliation><nlm:aff id="aff6">Service de Pédiatrie, Hôpital Jean Verdier, Assistance Publique – Hôpitaux de Paris, Bondy 93143, France</nlm:aff></affiliation></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name><affiliation><nlm:aff id="aff7">Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA</nlm:aff></affiliation></author><author><name sortKey="Clericuzio, Carol L" sort="Clericuzio, Carol L" uniqKey="Clericuzio C" first="Carol L." last="Clericuzio">Carol L. Clericuzio</name><affiliation><nlm:aff id="aff8">Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA</nlm:aff></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><affiliation><nlm:aff id="aff9">Manchester Academic Health Science Centre and University of Manchester, Manchester M13 9NT, UK</nlm:aff></affiliation></author><author><name sortKey="Curry, Cynthia J" sort="Curry, Cynthia J" uniqKey="Curry C" first="Cynthia J." last="Curry">Cynthia J. Curry</name><affiliation><nlm:aff id="aff10">Genetic Medicine Central California, University of California, San Francisco, Fresno, CA 93701, USA</nlm:aff></affiliation></author><author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><affiliation><nlm:aff id="aff11">Centre for Human Genetics, University Hospitals KU Leuven, 3000 Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Everman, David B" sort="Everman, David B" uniqKey="Everman D" first="David B." last="Everman">David B. Everman</name><affiliation><nlm:aff id="aff12">Greenwood Genetic Center, Greenwood, SC 29646, USA</nlm:aff></affiliation></author><author><name sortKey="Fryer, Alan" sort="Fryer, Alan" uniqKey="Fryer A" first="Alan" last="Fryer">Alan Fryer</name><affiliation><nlm:aff id="aff13">Department of Clinical Genetics, Alder Hey Children’s Hospital, Liverpool L12 2AP, UK</nlm:aff></affiliation></author><author><name sortKey="Gibson, Kate" sort="Gibson, Kate" uniqKey="Gibson K" first="Kate" last="Gibson">Kate Gibson</name><affiliation><nlm:aff id="aff14">Genetic Health Service New Zealand, Christchurch Hospital, Christchurch 8140, New Zealand</nlm:aff></affiliation></author><author><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria Luisa" last="Giovannucci Uzielli">Maria Luisa Giovannucci Uzielli</name><affiliation><nlm:aff id="aff15">Genetics and Molecular Medicine, Dipartimento di Scieze della Salute, University of Florence, Florence 50132, Italy</nlm:aff></affiliation></author><author><name sortKey="Graham, John M" sort="Graham, John M" uniqKey="Graham J" first="John M." last="Graham">John M. Graham</name><affiliation><nlm:aff id="aff16">Division of Clinical Genetics and Dysmorphology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA</nlm:aff></affiliation></author><author><name sortKey="Hall, Judith G" sort="Hall, Judith G" uniqKey="Hall J" first="Judith G." last="Hall">Judith G. Hall</name><affiliation><nlm:aff id="aff17">Departments of Medical Genetics and Pediatrics, University of British Columbia and BC Children’s Hospital, Vancouver, BC V6H 3N1, Canada</nlm:aff></affiliation></author><author><name sortKey="Hecht, Jacqueline T" sort="Hecht, Jacqueline T" uniqKey="Hecht J" first="Jacqueline T." last="Hecht">Jacqueline T. Hecht</name><affiliation><nlm:aff id="aff18">Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Heidenreich, Randall A" sort="Heidenreich, Randall A" uniqKey="Heidenreich R" first="Randall A." last="Heidenreich">Randall A. Heidenreich</name><affiliation><nlm:aff id="aff8">Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA</nlm:aff></affiliation></author><author><name sortKey="Hurst, Jane A" sort="Hurst, Jane A" uniqKey="Hurst J" first="Jane A." last="Hurst">Jane A. Hurst</name><affiliation><nlm:aff id="aff19">North East Thames Regional Genetic Service, Great Ormond Street Hospital, London WC1N 3BH, UK</nlm:aff></affiliation></author><author><name sortKey="Irani, Sarosh" sort="Irani, Sarosh" uniqKey="Irani S" first="Sarosh" last="Irani">Sarosh Irani</name><affiliation><nlm:aff id="aff20">Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU, UK</nlm:aff></affiliation></author><author><name sortKey="Krapels, Ingrid P C" sort="Krapels, Ingrid P C" uniqKey="Krapels I" first="Ingrid P. C." last="Krapels">Ingrid P. C. Krapels</name><affiliation><nlm:aff id="aff21">Department of Clinical Genetics, School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht 6229 GR, the Netherlands</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="aff22">Princess Elisabeth Children’s Hospital, Ghent University Hospital, 9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation><nlm:aff id="aff23">Department of Medical Genetics, Sydney Children’s Hospital, Sydney, NSW 2031, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">School of Women’s and Children’s Health, UNSW Medicine, University of New South Wales, Sydney, NSW 2052, Australia</nlm:aff></affiliation></author><author><name sortKey="Plant, Gordon T" sort="Plant, Gordon T" uniqKey="Plant G" first="Gordon T." last="Plant">Gordon T. Plant</name><affiliation><nlm:aff id="aff25">National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK</nlm:aff></affiliation></author><author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name><affiliation><nlm:aff id="aff26">Department of Women’s and Children’s Health, University of Otago, Dunedin 9054, New Zealand</nlm:aff></affiliation></author><author><name sortKey="Schorry, Elizabeth K" sort="Schorry, Elizabeth K" uniqKey="Schorry E" first="Elizabeth K." last="Schorry">Elizabeth K. Schorry</name><affiliation><nlm:aff id="aff27">Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA</nlm:aff></affiliation></author><author><name sortKey="Scott, Richard H" sort="Scott, Richard H" uniqKey="Scott R" first="Richard H." last="Scott">Richard H. Scott</name><affiliation><nlm:aff id="aff19">North East Thames Regional Genetic Service, Great Ormond Street Hospital, London WC1N 3BH, UK</nlm:aff></affiliation></author><author><name sortKey="Seaver, Laurie H" sort="Seaver, Laurie H" uniqKey="Seaver L" first="Laurie H." last="Seaver">Laurie H. Seaver</name><affiliation><nlm:aff id="aff28">Department of Pediatrics, University of Hawai‘i John A. Burns School of Medicine, Honolulu, HI 96826, USA</nlm:aff></affiliation></author><author><name sortKey="Sherr, Elliott" sort="Sherr, Elliott" uniqKey="Sherr E" first="Elliott" last="Sherr">Elliott Sherr</name><affiliation><nlm:aff id="aff29">Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA</nlm:aff></affiliation></author><author><name sortKey="Splitt, Miranda" sort="Splitt, Miranda" uniqKey="Splitt M" first="Miranda" last="Splitt">Miranda Splitt</name><affiliation><nlm:aff id="aff30">Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff></affiliation></author><author><name sortKey="Stewart, Helen" sort="Stewart, Helen" uniqKey="Stewart H" first="Helen" last="Stewart">Helen Stewart</name><affiliation><nlm:aff id="aff31">Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 7LJ, UK</nlm:aff></affiliation></author><author><name sortKey="Stumpel, Constance" sort="Stumpel, Constance" uniqKey="Stumpel C" first="Constance" last="Stumpel">Constance Stumpel</name><affiliation><nlm:aff id="aff21">Department of Clinical Genetics, School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht 6229 GR, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Temel, Sehime G" sort="Temel, Sehime G" uniqKey="Temel S" first="Sehime G." last="Temel">Sehime G. Temel</name><affiliation><nlm:aff id="aff32">Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa 16059, Turkey</nlm:aff></affiliation><affiliation><nlm:aff id="aff33">Department of Histology & Embryology, Faculty of Medicine, Uludag University, Bursa 16059, Turkey</nlm:aff></affiliation><affiliation><nlm:aff id="aff34">Department of Histology & Embryology, Faculty of Medicine, Near East University, TRNC Mersin 10, Turkey</nlm:aff></affiliation></author><author><name sortKey="Weaver, David D" sort="Weaver, David D" uniqKey="Weaver D" first="David D." last="Weaver">David D. Weaver</name><affiliation><nlm:aff id="aff35">Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA</nlm:aff></affiliation></author><author><name sortKey="Whiteford, Margo" sort="Whiteford, Margo" uniqKey="Whiteford M" first="Margo" last="Whiteford">Margo Whiteford</name><affiliation><nlm:aff id="aff36">Department of Clinical Genetics, Southern General Hospital, Glasgow G51 4TF, UK</nlm:aff></affiliation></author><author><name sortKey="Williams, Marc S" sort="Williams, Marc S" uniqKey="Williams M" first="Marc S." last="Williams">Marc S. Williams</name><affiliation><nlm:aff id="aff37">Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA</nlm:aff></affiliation></author><author><name sortKey="Tabor, Holly K" sort="Tabor, Holly K" uniqKey="Tabor H" first="Holly K." last="Tabor">Holly K. Tabor</name><affiliation><nlm:aff id="aff2">Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff38">Treuman Katz Center for Pediatric Bioethics, Seattle Children’s Research Institute, Seattle, WA 98101, USA</nlm:aff></affiliation></author><author><name sortKey="Smith, Joshua D" sort="Smith, Joshua D" uniqKey="Smith J" first="Joshua D." last="Smith">Joshua D. Smith</name><affiliation><nlm:aff id="aff39">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name><affiliation><nlm:aff id="aff39">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Nickerson, Deborah A" sort="Nickerson, Deborah A" uniqKey="Nickerson D" first="Deborah A." last="Nickerson">Deborah A. Nickerson</name><affiliation><nlm:aff id="aff39">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Bamshad, Michael J" sort="Bamshad, Michael J" uniqKey="Bamshad M" first="Michael J." last="Bamshad">Michael J. Bamshad</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff39">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24726473</idno><idno type="pmc">4067551</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067551</idno><idno type="RBID">PMC:4067551</idno><idno type="doi">10.1016/j.ajhg.2014.03.015</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001209</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001209</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>PIEZO2</italic> Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5</title><author><name sortKey="Mcmillin, Margaret J" sort="Mcmillin, Margaret J" uniqKey="Mcmillin M" first="Margaret J." last="Mcmillin">Margaret J. Mcmillin</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Beck, Anita E" sort="Beck, Anita E" uniqKey="Beck A" first="Anita E." last="Beck">Anita E. Beck</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Chong, Jessica X" sort="Chong, Jessica X" uniqKey="Chong J" first="Jessica X." last="Chong">Jessica X. Chong</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Shively, Kathryn M" sort="Shively, Kathryn M" uniqKey="Shively K" first="Kathryn M." last="Shively">Kathryn M. Shively</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Buckingham, Kati J" sort="Buckingham, Kati J" uniqKey="Buckingham K" first="Kati J." last="Buckingham">Kati J. Buckingham</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Gildersleeve, Heidi I S" sort="Gildersleeve, Heidi I S" uniqKey="Gildersleeve H" first="Heidi I. S." last="Gildersleeve">Heidi I. S. Gildersleeve</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Aracena, Mariana I" sort="Aracena, Mariana I" uniqKey="Aracena M" first="Mariana I." last="Aracena">Mariana I. Aracena</name><affiliation><nlm:aff id="aff3">Genetic Unit, Hospital Dr. Luis Calvo Mackenna, Santiago 7500539, Chile</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Division of Pediatrics, Pontificia Universidad Católica de Chile, Santiago 8330074, Chile</nlm:aff></affiliation></author><author><name sortKey="Aylsworth, Arthur S" sort="Aylsworth, Arthur S" uniqKey="Aylsworth A" first="Arthur S." last="Aylsworth">Arthur S. Aylsworth</name><affiliation><nlm:aff id="aff5">Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Bitoun, Pierre" sort="Bitoun, Pierre" uniqKey="Bitoun P" first="Pierre" last="Bitoun">Pierre Bitoun</name><affiliation><nlm:aff id="aff6">Service de Pédiatrie, Hôpital Jean Verdier, Assistance Publique – Hôpitaux de Paris, Bondy 93143, France</nlm:aff></affiliation></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name><affiliation><nlm:aff id="aff7">Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA</nlm:aff></affiliation></author><author><name sortKey="Clericuzio, Carol L" sort="Clericuzio, Carol L" uniqKey="Clericuzio C" first="Carol L." last="Clericuzio">Carol L. Clericuzio</name><affiliation><nlm:aff id="aff8">Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA</nlm:aff></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><affiliation><nlm:aff id="aff9">Manchester Academic Health Science Centre and University of Manchester, Manchester M13 9NT, UK</nlm:aff></affiliation></author><author><name sortKey="Curry, Cynthia J" sort="Curry, Cynthia J" uniqKey="Curry C" first="Cynthia J." last="Curry">Cynthia J. Curry</name><affiliation><nlm:aff id="aff10">Genetic Medicine Central California, University of California, San Francisco, Fresno, CA 93701, USA</nlm:aff></affiliation></author><author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><affiliation><nlm:aff id="aff11">Centre for Human Genetics, University Hospitals KU Leuven, 3000 Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Everman, David B" sort="Everman, David B" uniqKey="Everman D" first="David B." last="Everman">David B. Everman</name><affiliation><nlm:aff id="aff12">Greenwood Genetic Center, Greenwood, SC 29646, USA</nlm:aff></affiliation></author><author><name sortKey="Fryer, Alan" sort="Fryer, Alan" uniqKey="Fryer A" first="Alan" last="Fryer">Alan Fryer</name><affiliation><nlm:aff id="aff13">Department of Clinical Genetics, Alder Hey Children’s Hospital, Liverpool L12 2AP, UK</nlm:aff></affiliation></author><author><name sortKey="Gibson, Kate" sort="Gibson, Kate" uniqKey="Gibson K" first="Kate" last="Gibson">Kate Gibson</name><affiliation><nlm:aff id="aff14">Genetic Health Service New Zealand, Christchurch Hospital, Christchurch 8140, New Zealand</nlm:aff></affiliation></author><author><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria Luisa" last="Giovannucci Uzielli">Maria Luisa Giovannucci Uzielli</name><affiliation><nlm:aff id="aff15">Genetics and Molecular Medicine, Dipartimento di Scieze della Salute, University of Florence, Florence 50132, Italy</nlm:aff></affiliation></author><author><name sortKey="Graham, John M" sort="Graham, John M" uniqKey="Graham J" first="John M." last="Graham">John M. Graham</name><affiliation><nlm:aff id="aff16">Division of Clinical Genetics and Dysmorphology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA</nlm:aff></affiliation></author><author><name sortKey="Hall, Judith G" sort="Hall, Judith G" uniqKey="Hall J" first="Judith G." last="Hall">Judith G. Hall</name><affiliation><nlm:aff id="aff17">Departments of Medical Genetics and Pediatrics, University of British Columbia and BC Children’s Hospital, Vancouver, BC V6H 3N1, Canada</nlm:aff></affiliation></author><author><name sortKey="Hecht, Jacqueline T" sort="Hecht, Jacqueline T" uniqKey="Hecht J" first="Jacqueline T." last="Hecht">Jacqueline T. Hecht</name><affiliation><nlm:aff id="aff18">Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Heidenreich, Randall A" sort="Heidenreich, Randall A" uniqKey="Heidenreich R" first="Randall A." last="Heidenreich">Randall A. Heidenreich</name><affiliation><nlm:aff id="aff8">Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA</nlm:aff></affiliation></author><author><name sortKey="Hurst, Jane A" sort="Hurst, Jane A" uniqKey="Hurst J" first="Jane A." last="Hurst">Jane A. Hurst</name><affiliation><nlm:aff id="aff19">North East Thames Regional Genetic Service, Great Ormond Street Hospital, London WC1N 3BH, UK</nlm:aff></affiliation></author><author><name sortKey="Irani, Sarosh" sort="Irani, Sarosh" uniqKey="Irani S" first="Sarosh" last="Irani">Sarosh Irani</name><affiliation><nlm:aff id="aff20">Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU, UK</nlm:aff></affiliation></author><author><name sortKey="Krapels, Ingrid P C" sort="Krapels, Ingrid P C" uniqKey="Krapels I" first="Ingrid P. C." last="Krapels">Ingrid P. C. Krapels</name><affiliation><nlm:aff id="aff21">Department of Clinical Genetics, School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht 6229 GR, the Netherlands</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="aff22">Princess Elisabeth Children’s Hospital, Ghent University Hospital, 9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation><nlm:aff id="aff23">Department of Medical Genetics, Sydney Children’s Hospital, Sydney, NSW 2031, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">School of Women’s and Children’s Health, UNSW Medicine, University of New South Wales, Sydney, NSW 2052, Australia</nlm:aff></affiliation></author><author><name sortKey="Plant, Gordon T" sort="Plant, Gordon T" uniqKey="Plant G" first="Gordon T." last="Plant">Gordon T. Plant</name><affiliation><nlm:aff id="aff25">National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK</nlm:aff></affiliation></author><author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name><affiliation><nlm:aff id="aff26">Department of Women’s and Children’s Health, University of Otago, Dunedin 9054, New Zealand</nlm:aff></affiliation></author><author><name sortKey="Schorry, Elizabeth K" sort="Schorry, Elizabeth K" uniqKey="Schorry E" first="Elizabeth K." last="Schorry">Elizabeth K. Schorry</name><affiliation><nlm:aff id="aff27">Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA</nlm:aff></affiliation></author><author><name sortKey="Scott, Richard H" sort="Scott, Richard H" uniqKey="Scott R" first="Richard H." last="Scott">Richard H. Scott</name><affiliation><nlm:aff id="aff19">North East Thames Regional Genetic Service, Great Ormond Street Hospital, London WC1N 3BH, UK</nlm:aff></affiliation></author><author><name sortKey="Seaver, Laurie H" sort="Seaver, Laurie H" uniqKey="Seaver L" first="Laurie H." last="Seaver">Laurie H. Seaver</name><affiliation><nlm:aff id="aff28">Department of Pediatrics, University of Hawai‘i John A. Burns School of Medicine, Honolulu, HI 96826, USA</nlm:aff></affiliation></author><author><name sortKey="Sherr, Elliott" sort="Sherr, Elliott" uniqKey="Sherr E" first="Elliott" last="Sherr">Elliott Sherr</name><affiliation><nlm:aff id="aff29">Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA</nlm:aff></affiliation></author><author><name sortKey="Splitt, Miranda" sort="Splitt, Miranda" uniqKey="Splitt M" first="Miranda" last="Splitt">Miranda Splitt</name><affiliation><nlm:aff id="aff30">Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff></affiliation></author><author><name sortKey="Stewart, Helen" sort="Stewart, Helen" uniqKey="Stewart H" first="Helen" last="Stewart">Helen Stewart</name><affiliation><nlm:aff id="aff31">Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 7LJ, UK</nlm:aff></affiliation></author><author><name sortKey="Stumpel, Constance" sort="Stumpel, Constance" uniqKey="Stumpel C" first="Constance" last="Stumpel">Constance Stumpel</name><affiliation><nlm:aff id="aff21">Department of Clinical Genetics, School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht 6229 GR, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Temel, Sehime G" sort="Temel, Sehime G" uniqKey="Temel S" first="Sehime G." last="Temel">Sehime G. Temel</name><affiliation><nlm:aff id="aff32">Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa 16059, Turkey</nlm:aff></affiliation><affiliation><nlm:aff id="aff33">Department of Histology & Embryology, Faculty of Medicine, Uludag University, Bursa 16059, Turkey</nlm:aff></affiliation><affiliation><nlm:aff id="aff34">Department of Histology & Embryology, Faculty of Medicine, Near East University, TRNC Mersin 10, Turkey</nlm:aff></affiliation></author><author><name sortKey="Weaver, David D" sort="Weaver, David D" uniqKey="Weaver D" first="David D." last="Weaver">David D. Weaver</name><affiliation><nlm:aff id="aff35">Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA</nlm:aff></affiliation></author><author><name sortKey="Whiteford, Margo" sort="Whiteford, Margo" uniqKey="Whiteford M" first="Margo" last="Whiteford">Margo Whiteford</name><affiliation><nlm:aff id="aff36">Department of Clinical Genetics, Southern General Hospital, Glasgow G51 4TF, UK</nlm:aff></affiliation></author><author><name sortKey="Williams, Marc S" sort="Williams, Marc S" uniqKey="Williams M" first="Marc S." last="Williams">Marc S. Williams</name><affiliation><nlm:aff id="aff37">Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA</nlm:aff></affiliation></author><author><name sortKey="Tabor, Holly K" sort="Tabor, Holly K" uniqKey="Tabor H" first="Holly K." last="Tabor">Holly K. Tabor</name><affiliation><nlm:aff id="aff2">Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff38">Treuman Katz Center for Pediatric Bioethics, Seattle Children’s Research Institute, Seattle, WA 98101, USA</nlm:aff></affiliation></author><author><name sortKey="Smith, Joshua D" sort="Smith, Joshua D" uniqKey="Smith J" first="Joshua D." last="Smith">Joshua D. Smith</name><affiliation><nlm:aff id="aff39">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name><affiliation><nlm:aff id="aff39">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Nickerson, Deborah A" sort="Nickerson, Deborah A" uniqKey="Nickerson D" first="Deborah A." last="Nickerson">Deborah A. Nickerson</name><affiliation><nlm:aff id="aff39">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Bamshad, Michael J" sort="Bamshad, Michael J" uniqKey="Bamshad M" first="Michael J." last="Bamshad">Michael J. Bamshad</name><affiliation><nlm:aff id="aff1">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff39">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</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>Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (<italic>PIEZO2</italic>) in each family. Sanger sequencing revealed <italic>PIEZO2</italic> mutations in five of seven additional families studied (for a total of 10/12 [83%] individuals), and nine families had an identical c.8057G>A (p.Arg2686His) mutation. The phenotype of GS overlaps with distal arthrogryposis type 5 (DA5) and Marden-Walker syndrome (MWS). Using molecular inversion probes for targeted sequencing to screen <italic>PIEZO2,</italic> we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. The presence of cleft palate was significantly associated with c.8057G>A (Fisher’s exact test, adjusted p value < 0.0001). Collectively, although GS, DA5, and MWS have traditionally been considered separate disorders, our findings indicate that they are etiologically related and perhaps represent variable expressivity of the same condition.</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">24726473</article-id><article-id pub-id-type="pmc">4067551</article-id><article-id pub-id-type="publisher-id">S0002-9297(14)00117-7</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2014.03.015</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Mutations in <italic>PIEZO2</italic> Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>McMillin</surname><given-names>Margaret J.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">40</xref></contrib><contrib contrib-type="author"><name><surname>Beck</surname><given-names>Anita E.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">40</xref></contrib><contrib contrib-type="author"><name><surname>Chong</surname><given-names>Jessica X.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Shively</surname><given-names>Kathryn M.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Buckingham</surname><given-names>Kati J.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Gildersleeve</surname><given-names>Heidi I.S.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Aracena</surname><given-names>Mariana I.</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Aylsworth</surname><given-names>Arthur S.</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Bitoun</surname><given-names>Pierre</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Carey</surname><given-names>John C.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Clericuzio</surname><given-names>Carol L.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Crow</surname><given-names>Yanick J.</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Curry</surname><given-names>Cynthia J.</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Devriendt</surname><given-names>Koenraad</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Everman</surname><given-names>David B.</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Fryer</surname><given-names>Alan</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Gibson</surname><given-names>Kate</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Giovannucci Uzielli</surname><given-names>Maria Luisa</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Graham</surname><given-names>John M.</given-names><suffix>Jr.</suffix></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Hall</surname><given-names>Judith G.</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Hecht</surname><given-names>Jacqueline T.</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Heidenreich</surname><given-names>Randall A.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Hurst</surname><given-names>Jane A.</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Irani</surname><given-names>Sarosh</given-names></name><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Krapels</surname><given-names>Ingrid P.C.</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Leroy</surname><given-names>Jules G.</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Mowat</surname><given-names>David</given-names></name><xref rid="aff23" ref-type="aff">23</xref><xref rid="aff24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Plant</surname><given-names>Gordon T.</given-names></name><xref rid="aff25" ref-type="aff">25</xref></contrib><contrib contrib-type="author"><name><surname>Robertson</surname><given-names>Stephen P.</given-names></name><xref rid="aff26" ref-type="aff">26</xref></contrib><contrib contrib-type="author"><name><surname>Schorry</surname><given-names>Elizabeth K.</given-names></name><xref rid="aff27" ref-type="aff">27</xref></contrib><contrib contrib-type="author"><name><surname>Scott</surname><given-names>Richard H.</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Seaver</surname><given-names>Laurie H.</given-names></name><xref rid="aff28" ref-type="aff">28</xref></contrib><contrib contrib-type="author"><name><surname>Sherr</surname><given-names>Elliott</given-names></name><xref rid="aff29" ref-type="aff">29</xref></contrib><contrib contrib-type="author"><name><surname>Splitt</surname><given-names>Miranda</given-names></name><xref rid="aff30" ref-type="aff">30</xref></contrib><contrib contrib-type="author"><name><surname>Stewart</surname><given-names>Helen</given-names></name><xref rid="aff31" ref-type="aff">31</xref></contrib><contrib contrib-type="author"><name><surname>Stumpel</surname><given-names>Constance</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Temel</surname><given-names>Sehime G.</given-names></name><xref rid="aff32" ref-type="aff">32</xref><xref rid="aff33" ref-type="aff">33</xref><xref rid="aff34" ref-type="aff">34</xref></contrib><contrib contrib-type="author"><name><surname>Weaver</surname><given-names>David D.</given-names></name><xref rid="aff35" ref-type="aff">35</xref></contrib><contrib contrib-type="author"><name><surname>Whiteford</surname><given-names>Margo</given-names></name><xref rid="aff36" ref-type="aff">36</xref></contrib><contrib contrib-type="author"><name><surname>Williams</surname><given-names>Marc S.</given-names></name><xref rid="aff37" ref-type="aff">37</xref></contrib><contrib contrib-type="author"><name><surname>Tabor</surname><given-names>Holly K.</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff38" ref-type="aff">38</xref></contrib><contrib contrib-type="author"><name><surname>Smith</surname><given-names>Joshua D.</given-names></name><xref rid="aff39" ref-type="aff">39</xref></contrib><contrib contrib-type="author"><name><surname>Shendure</surname><given-names>Jay</given-names></name><xref rid="aff39" ref-type="aff">39</xref></contrib><contrib contrib-type="author"><name><surname>Nickerson</surname><given-names>Deborah A.</given-names></name><xref rid="aff39" ref-type="aff">39</xref></contrib><contrib contrib-type="author"><collab>University of Washington Center for Mendelian Genomics</collab></contrib><contrib contrib-type="author"><name><surname>Bamshad</surname><given-names>Michael J.</given-names></name><email>mbamshad@uw.edu</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff39" ref-type="aff">39</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</aff><aff id="aff2"><label>2</label>Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA</aff><aff id="aff3"><label>3</label>Genetic Unit, Hospital Dr. Luis Calvo Mackenna, Santiago 7500539, Chile</aff><aff id="aff4"><label>4</label>Division of Pediatrics, Pontificia Universidad Católica de Chile, Santiago 8330074, Chile</aff><aff id="aff5"><label>5</label>Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</aff><aff id="aff6"><label>6</label>Service de Pédiatrie, Hôpital Jean Verdier, Assistance Publique – Hôpitaux de Paris, Bondy 93143, France</aff><aff id="aff7"><label>7</label>Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA</aff><aff id="aff8"><label>8</label>Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA</aff><aff id="aff9"><label>9</label>Manchester Academic Health Science Centre and University of Manchester, Manchester M13 9NT, UK</aff><aff id="aff10"><label>10</label>Genetic Medicine Central California, University of California, San Francisco, Fresno, CA 93701, USA</aff><aff id="aff11"><label>11</label>Centre for Human Genetics, University Hospitals KU Leuven, 3000 Leuven, Belgium</aff><aff id="aff12"><label>12</label>Greenwood Genetic Center, Greenwood, SC 29646, USA</aff><aff id="aff13"><label>13</label>Department of Clinical Genetics, Alder Hey Children’s Hospital, Liverpool L12 2AP, UK</aff><aff id="aff14"><label>14</label>Genetic Health Service New Zealand, Christchurch Hospital, Christchurch 8140, New Zealand</aff><aff id="aff15"><label>15</label>Genetics and Molecular Medicine, Dipartimento di Scieze della Salute, University of Florence, Florence 50132, Italy</aff><aff id="aff16"><label>16</label>Division of Clinical Genetics and Dysmorphology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA</aff><aff id="aff17"><label>17</label>Departments of Medical Genetics and Pediatrics, University of British Columbia and BC Children’s Hospital, Vancouver, BC V6H 3N1, Canada</aff><aff id="aff18"><label>18</label>Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA</aff><aff id="aff19"><label>19</label>North East Thames Regional Genetic Service, Great Ormond Street Hospital, London WC1N 3BH, UK</aff><aff id="aff20"><label>20</label>Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU, UK</aff><aff id="aff21"><label>21</label>Department of Clinical Genetics, School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht 6229 GR, the Netherlands</aff><aff id="aff22"><label>22</label>Princess Elisabeth Children’s Hospital, Ghent University Hospital, 9000 Ghent, Belgium</aff><aff id="aff23"><label>23</label>Department of Medical Genetics, Sydney Children’s Hospital, Sydney, NSW 2031, Australia</aff><aff id="aff24"><label>24</label>School of Women’s and Children’s Health, UNSW Medicine, University of New South Wales, Sydney, NSW 2052, Australia</aff><aff id="aff25"><label>25</label>National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK</aff><aff id="aff26"><label>26</label>Department of Women’s and Children’s Health, University of Otago, Dunedin 9054, New Zealand</aff><aff id="aff27"><label>27</label>Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA</aff><aff id="aff28"><label>28</label>Department of Pediatrics, University of Hawai‘i John A. Burns School of Medicine, Honolulu, HI 96826, USA</aff><aff id="aff29"><label>29</label>Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA</aff><aff id="aff30"><label>30</label>Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NE1 3BZ, UK</aff><aff id="aff31"><label>31</label>Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 7LJ, UK</aff><aff id="aff32"><label>32</label>Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa 16059, Turkey</aff><aff id="aff33"><label>33</label>Department of Histology & Embryology, Faculty of Medicine, Uludag University, Bursa 16059, Turkey</aff><aff id="aff34"><label>34</label>Department of Histology & Embryology, Faculty of Medicine, Near East University, TRNC Mersin 10, Turkey</aff><aff id="aff35"><label>35</label>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA</aff><aff id="aff36"><label>36</label>Department of Clinical Genetics, Southern General Hospital, Glasgow G51 4TF, UK</aff><aff id="aff37"><label>37</label>Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA</aff><aff id="aff38"><label>38</label>Treuman Katz Center for Pediatric Bioethics, Seattle Children’s Research Institute, Seattle, WA 98101, USA</aff><aff id="aff39"><label>39</label>Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>mbamshad@uw.edu</email></corresp><fn id="fn1"><label>40</label><p>These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>01</day><month>5</month><year>2014</year></pub-date><volume>94</volume><issue>5</issue><fpage>734</fpage><lpage>744</lpage><history><date date-type="received"><day>6</day><month>1</month><year>2014</year></date><date date-type="accepted"><day>20</day><month>3</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>Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (<italic>PIEZO2</italic>) in each family. Sanger sequencing revealed <italic>PIEZO2</italic> mutations in five of seven additional families studied (for a total of 10/12 [83%] individuals), and nine families had an identical c.8057G>A (p.Arg2686His) mutation. The phenotype of GS overlaps with distal arthrogryposis type 5 (DA5) and Marden-Walker syndrome (MWS). Using molecular inversion probes for targeted sequencing to screen <italic>PIEZO2,</italic> we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. The presence of cleft palate was significantly associated with c.8057G>A (Fisher’s exact test, adjusted p value < 0.0001). Collectively, although GS, DA5, and MWS have traditionally been considered separate disorders, our findings indicate that they are etiologically related and perhaps represent variable expressivity of the same condition.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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