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| DOI | 10.1016/J.AJHG.2014.03.015 | ||||
| Año | 2014 | ||||
| Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
Gordon syndrome (GS), or distal arthrogyposis 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 mechano-sensitive 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.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | McMillin, Margaret J. | Mujer |
UNIV WASHINGTON - Estados Unidos
University of Washington School of Medicine - Estados Unidos University of Washington, Seattle - Estados Unidos University of Washington - Estados Unidos |
| 2 | Beck, Anita E. | Mujer |
UNIV WASHINGTON - Estados Unidos
Seattle Childrens Hosp - Estados Unidos University of Washington School of Medicine - Estados Unidos Children's Hospital and Regional Medical Center - Estados Unidos University of Washington, Seattle - Estados Unidos University of Washington - Estados Unidos Seattle Children's Hospital - Estados Unidos |
| 3 | Chong, Jessica X. | Mujer |
UNIV WASHINGTON - Estados Unidos
University of Washington School of Medicine - Estados Unidos University of Washington, Seattle - Estados Unidos University of Washington - Estados Unidos |
| 4 | Shively, Kathryn M. | Mujer |
UNIV WASHINGTON - Estados Unidos
University of Washington School of Medicine - Estados Unidos University of Washington, Seattle - Estados Unidos University of Washington - Estados Unidos |
| 5 | Buckingham, Kati J. | Mujer |
UNIV WASHINGTON - Estados Unidos
University of Washington School of Medicine - Estados Unidos University of Washington, Seattle - Estados Unidos University of Washington - Estados Unidos |
| 6 | Gildersleeve, Heidi I. S. | Mujer |
UNIV WASHINGTON - Estados Unidos
University of Washington School of Medicine - Estados Unidos University of Washington, Seattle - Estados Unidos University of Washington - Estados Unidos |
| 7 | ARACENA-ALVAREZ, MARIANA INES | Mujer |
Hospital Luis Calvo Mackenna - Chile
Pontificia Universidad Católica de Chile - Chile Hospital Dr. Luis Calvo Mackenna - Chile |
| 8 | Aylsworth, Arthur S. | Hombre |
UNIV N CAROLINA - Estados Unidos
The University of North Carolina at Chapel Hill - Estados Unidos |
| 9 | Bitoun, Pierre | Hombre |
Hop Jean Verdier - Francia
Hopital Jean-Verdier - Francia |
| 10 | Carey, John C. | Hombre |
Univ Utah - Estados Unidos
University of Utah - Estados Unidos The University of Utah - Estados Unidos |
| 11 | Clericuzio, Carol L. | Mujer |
UNIV NEW MEXICO - Estados Unidos
The University of New Mexico - Estados Unidos |
| 12 | Crow, Yanick | - |
Manchester Acad Hlth Sci Ctr - Reino Unido
UNIV MANCHESTER - Reino Unido University of Manchester - Reino Unido The University of Manchester - Reino Unido |
| 13 | Curry, Cynthia J. | Mujer |
UNIV CALIF SAN FRANCISCO - Estados Unidos
University of California, San Francisco - Estados Unidos |
| 14 | Devriendt, Koenraad | Hombre |
Univ Hosp KU Leuven - Bélgica
KU Leuven– University Hospital Leuven - Bélgica |
| 15 | Everman, David B. | Hombre |
Greenwood Genet Ctr - Estados Unidos
Greenwood Genetics Center - Estados Unidos |
| 16 | Fryer, Alan | Hombre |
Alder Hey Childrens Hosp - Reino Unido
Alder Hey Children's Hospital - Reino Unido |
| 17 | Gibson, Kate | Mujer |
Christchurch Hosp - Nueva Zelanda
Christchurch Hospital New Zealand - Nueva Zelanda |
| 18 | Giovannucci Uzielli, Maria Luisa | Mujer |
Università degli Studi di Firenze - Italia
UNIV FLORENCE - Italia |
| 18 | Uzielli, Maria Luisa | Mujer |
UNIV FLORENCE - Italia
Università degli Studi di Firenze - Italia |
| 19 | Graham, John M. | Hombre |
Cedars Sinai Med Ctr - Estados Unidos
Cedars-Sinai Medical Center - Estados Unidos |
| 20 | Hall, Judith G. | Mujer |
UNIV BRITISH COLUMBIA - Canadá
BC Childrens Hosp - Canadá The University of British Columbia - Canadá |
| 21 | Hecht, Jacqueline T. | Mujer |
Univ Texas Med Sch - Estados Unidos
University of Texas Medical School at Houston - Estados Unidos |
| 22 | Heidenreich, Randall A. | Hombre |
UNIV NEW MEXICO - Estados Unidos
The University of New Mexico - Estados Unidos |
| 23 | Hurst, Jane | Mujer |
Great Ormond St Hosp Sick Children - Reino Unido
UCL - Reino Unido Great Ormond Street Hospital for Children NHS Foundation Trust - Reino Unido |
| 24 | Irani, Sarosh | - |
UNIV OXFORD - Reino Unido
University of Oxford - Reino Unido University of Oxford Medical Sciences Division - Reino Unido |
| 25 | Krapels, Ingrid P. C. | Mujer |
Maastricht UMC - Países Bajos
School for Oncology and Developmental Biology - Países Bajos |
| 26 | Leroy, Jules G. | Hombre |
Ghent Univ Hosp - Bélgica
University Hospital of Ghent - Bélgica Universitair Ziekenhuis Gent - Bélgica |
| 27 | Mowat, David | Hombre |
Sydney Childrens Hosp - Australia
Univ New S Wales - Australia Sydney Children's Hospital - Australia University of New South Wales (UNSW) Australia - Australia Sydney Children's Hospital, Randwick - Australia UNSW Medicine - Australia |
| 28 | Plant, Gordon T. | Hombre |
Natl Hosp Neurol & Neurosurg - Reino Unido
UCL - Reino Unido National Hospital for Neurology and Neurosurgery - Reino Unido |
| 29 | Robertson, Stephen P. | Hombre |
UNIV OTAGO - Nueva Zelanda
University of Otago - Nueva Zelanda |
| 30 | Schorry, Elizabeth | Mujer |
Cincinnati Childrens Hosp Med Ctr - Estados Unidos
Cincinnati Children's Hospital Medical Center - Estados Unidos |
| 31 | Scott, Richard H. | Hombre |
Great Ormond St Hosp Sick Children - Reino Unido
UCL - Reino Unido Great Ormond Street Hospital for Children NHS Foundation Trust - Reino Unido |
| 32 | Seaver, Laurie H. | Mujer |
Univ Hawaii - Estados Unidos
John A. Burns School of Medicine - Estados Unidos |
| 33 | Sherr, Elliott | Hombre |
UNIV CALIF SAN FRANCISCO - Estados Unidos
University of California, San Francisco - Estados Unidos |
| 34 | Splitt, Miranda | Mujer |
Inst Med Genet - Reino Unido
Institute of Genetic Medicine - Reino Unido University of Newcastle upon Tyne, Faculty of Medical Sciences - Reino Unido |
| 35 | Stewart, Helen | Mujer |
Oxford Univ Hosp NHS Trust - Reino Unido
University of Oxford - Reino Unido Churchill Hospital - Reino Unido |
| 36 | Stumpel, Constance | Mujer |
Maastricht UMC - Países Bajos
School for Oncology and Developmental Biology - Países Bajos |
| 37 | Temel, Sehime G. | - |
Uludag Univ - Turquía
Near East Univ - Turquía Bursa Uludağ Üniversitesi - Turquía Yakin Doğu Üniversitesi - Turquía Yakın Doğu Üniversitesi - Chipre |
| 38 | Weaver, David D. | Hombre |
Indiana Univ Sch Med - Estados Unidos
Indiana University School of Medicine Indianapolis - Estados Unidos Indiana University School of Medicine - Estados Unidos |
| 39 | Whiteford, Margo | Mujer |
So Gen Hosp - Reino Unido
Southern General Hospital Glasgow - Reino Unido University of Otago - Reino Unido |
| 40 | Williams, Marc S. | Hombre |
Geisinger Hlth Syst - Estados Unidos
Geisinger Health System - Estados Unidos |
| 41 | Tabor, Holly K. | Mujer |
Seattle Childrens Hosp - Estados Unidos
Seattle Childrens Res Inst - Estados Unidos Children's Hospital and Regional Medical Center - Estados Unidos Seattle Children's Hospital - Estados Unidos |
| 42 | Smith, Joshua D. | Hombre |
UNIV WASHINGTON - Estados Unidos
University of Washington, Seattle - Estados Unidos University of Washington - Estados Unidos |
| 43 | Shendure, Jay | - |
UNIV WASHINGTON - Estados Unidos
University of Washington, Seattle - Estados Unidos University of Washington - Estados Unidos |
| 44 | Nickerson, Deborah A. | Mujer |
UNIV WASHINGTON - Estados Unidos
University of Washington, Seattle - Estados Unidos University of Washington - Estados Unidos |
| 45 | Washington, Univ | - | |
| 45 | Bamshad, Michael J. | Hombre |
UNIV WASHINGTON - Estados Unidos
Seattle Childrens Hosp - Estados Unidos University of Washington School of Medicine - Estados Unidos Children's Hospital and Regional Medical Center - Estados Unidos University of Washington, Seattle - Estados Unidos University of Washington - Estados Unidos Seattle Children's Hospital - Estados Unidos |
| Fuente |
|---|
| National Institute of Child Health and Human Development |
| Eunice Kennedy Shriver National Institute of Child Health and Human Development |
| National Human Genome Research Institute |
| Washington Research Foundation |
| Life Sciences Discovery Fund |
| NIH National Institute of Child Health and Human Development |
| NIH National Human Genome Research Institute |
| Agradecimiento |
|---|
| We thank the families for their participation and support, Paul Frisby and Rosanna Pallotta for referral of affected individuals, and Christa Poel for technical assistance. Our work was supported in part by grants from the NIH National Human Genome Research Institute (1U54HG006493 to M.J.B., D.A.N., and J.S.; 1RC2HG005608 to M.J.B., D.A.N., and J.S.; 5R000HG004316 to H.K.T.), the NIH National Institute of Child Health and Human Development (1R01HD048895 to M.J.B.; 5K23HD057331 to A.E.B.), the Life Sciences Discovery Fund (2065508 and 0905001), and the Washington Research Foundation. |
| We thank the families for their participation and support, Paul Frisby and Rosanna Pallotta for referral of affected individuals, and Christa Poel for technical assistance. Our work was supported in part by grants from the NIH National Human Genome Research Institute (1U54HG006493 to M.J.B., D.A.N., and J.S.; 1RC2HG005608 to M.J.B., D.A.N., and J.S.; 5R000HG004316 to H.K.T.), the NIH National Institute of Child Health and Human Development (1R01HD048895 to M.J.B.; 5K23HD057331 to A.E.B.), the Life Sciences Discovery Fund (2065508 and 0905001), and the Washington Research Foundation. |