Article
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
American journal of human genetics - 1 May 2014
McMillin Margaret J, Beck Anita E, Chong Jessica X, Shively Kathryn M, Buckingham Kati J, Gildersleeve Heidi I S, Aracena Mariana I, Aylsworth Arthur S, Bitoun Pierre, Carey John C, Clericuzio Carol L, Crow Yanick J, Curry Cynthia J, Devriendt Koenraad, Everman David B, Fryer Alan, Gibson Kate, Giovannucci Uzielli Maria Luisa, Graham John M, Hall Judith G, Hecht Jacqueline T, Heidenreich Randall A, Hurst Jane A, Irani Sarosh, Krapels Ingrid P C, Leroy Jules G, Mowat David, Plant Gordon T, Robertson Stephen P, Schorry Elizabeth K, Scott Richard H, Seaver Laurie H, Sherr Elliott, Splitt Miranda, Stewart Helen, Stumpel Constance, Temel Sehime G, Weaver David D, Whiteford Margo, Williams Marc S, Tabor Holly K, Smith Joshua D, Shendure Jay, Nickerson Deborah A, Bamshad Michael J
Abstract excerpt
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...
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