Ontology highlight
ABSTRACT:
SUBMITTER: McMillin MJ
PROVIDER: S-EPMC4067551 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
McMillin Margaret J MJ Beck Anita E AE Chong Jessica X JX Shively Kathryn M KM Buckingham Kati J KJ Gildersleeve Heidi I S HI Aracena Mariana I MI Aylsworth Arthur S AS Bitoun Pierre P Carey John C JC Clericuzio Carol L CL Crow Yanick J YJ Curry Cynthia J CJ Devriendt Koenraad K Everman David B DB Fryer Alan A Gibson Kate K Giovannucci Uzielli Maria Luisa ML Graham John M JM Hall Judith G JG Hecht Jacqueline T JT Heidenreich Randall A RA Hurst Jane A JA Irani Sarosh S Krapels Ingrid P C IP Leroy Jules G JG Mowat David D Plant Gordon T GT Robertson Stephen P SP Schorry Elizabeth K EK Scott Richard H RH Seaver Laurie H LH Sherr Elliott E Splitt Miranda M Stewart Helen H Stumpel Constance C Temel Sehime G SG Weaver David D DD Whiteford Margo M Williams Marc S MS Tabor Holly K HK Smith Joshua D JD Shendure Jay J Nickerson Deborah A DA Bamshad Michael J MJ
American journal of human genetics 20140410 5
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 (PIEZO2) in each family. Sanger sequencing revealed PIEZO2 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 ...[more]