Title: Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
Authors: 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
University of Washington Center for Mendelian Genomics
Bamshad, Michael J #
Issue Date: May-2014
Publisher: American Society of Human Genetics
Series Title: American Journal of Human Genetics vol:94 issue:5 pages:734-744
Article number: S0002-9297(14)00117-7
Abstract: 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.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 PIEZO2, 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.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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