Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
dc.contributor.author | McMillin, Margaret J. | |
dc.contributor.author | Beck, Anita E. | |
dc.contributor.author | Chong, Jessica X. | |
dc.contributor.author | Shively, Kathryn M. | |
dc.contributor.author | Buckingham, Kati J. | |
dc.contributor.author | Gildersleeve, Heidi I.S. | |
dc.contributor.author | Aracena, Mariana I. | |
dc.contributor.author | Aylsworth, Arthur S. | |
dc.contributor.author | Bitoun, Pierre | |
dc.contributor.author | Carey, John C. | |
dc.contributor.author | Clericuzio, Carol L. | |
dc.contributor.author | Crow, Yanick J. | |
dc.contributor.author | Curry, Cynthia J. | |
dc.contributor.author | Devriendt, Koenraad | |
dc.contributor.author | Everman, David B. | |
dc.contributor.author | Fryer, Alan | |
dc.contributor.author | Gibson, Kate | |
dc.contributor.author | Uzielli, Maria Luisa Giovannucci | |
dc.contributor.author | Graham, John M. Jr. | |
dc.contributor.author | Hall, Judith G. | |
dc.contributor.author | Hecht, Jacqueline T. | |
dc.contributor.author | Heidenreich, Randall A. | |
dc.contributor.author | Hurst, Jane A. | |
dc.contributor.author | Irani, Sarosh | |
dc.contributor.author | Krapels, Ingrid P.C. | |
dc.contributor.author | Leroy, Jules G. | |
dc.contributor.author | Mowat, David | |
dc.contributor.author | Plant, Gordon T. | |
dc.contributor.author | Robertson, Stephen P. | |
dc.contributor.author | Schorry, Elizabeth K. | |
dc.contributor.author | Scott, Richard H. | |
dc.contributor.author | Seaver, Laurie H. | |
dc.contributor.author | Sherr, Elliott | |
dc.contributor.author | Splitt, Miranda | |
dc.contributor.author | Stewart, Helen | |
dc.contributor.author | Stumpel, Constance | |
dc.contributor.author | Temel, Sehime G. | |
dc.contributor.author | Weaver, David D. | |
dc.contributor.author | Whiteford, Margo | |
dc.contributor.author | Williams, Marc S. | |
dc.contributor.author | Tabor, Holly K. | |
dc.contributor.author | Smith, Joshua D. | |
dc.contributor.author | Shendure, Jay | |
dc.contributor.author | Nickerson, Deborah A. | |
dc.contributor.author | Bamshad, Michael J. | |
dc.contributor.department | Medical & Molecular Genetics, School of Medicine | en_US |
dc.date.accessioned | 2015-09-14T16:22:59Z | |
dc.date.available | 9999 | |
dc.date.issued | 2014-05-01 | |
dc.description.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. | en_US |
dc.identifier.citation | McMillin, M. J., Beck, A. E., Chong, J. X., Shively, K. M., Buckingham, K. J., Gildersleeve, H. I. S., … Bamshad, M. J. (2014). Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5. American Journal of Human Genetics, 94(5), 734–744. http://doi.org/10.1016/j.ajhg.2014.03.015 | en_US |
dc.identifier.uri | https://hdl.handle.net/1805/6833 | |
dc.language.iso | en_US | en_US |
dc.publisher | Elsevier | en_US |
dc.relation.isversionof | 10.1016/j.ajhg.2014.03.015 | en_US |
dc.relation.journal | American Journal of Human Genetics | en_US |
dc.rights | Publisher Policy | en_US |
dc.source | PMC | en_US |
dc.subject | Gordon Syndrome | en_US |
dc.subject | Marden-Walker syndrome | en_US |
dc.subject | distal arthrogryposis type 5 | en_US |
dc.title | Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5 | en_US |
dc.type | Article | en_US |