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Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker Syndrome, and distal arthrogryposis type 5
Indexado
WoS WOS:000335485700007
Scopus SCOPUS_ID:84899963553
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


Abstract



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.

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Disciplinas de Investigación



WOS
Genetics & Heredity
Scopus
Sin Disciplinas
SciELO
Sin Disciplinas

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Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional



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Autores - Afiliación



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

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Origen de Citas Identificadas



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Citas identificadas: Las citas provienen de documentos incluidos en la base de datos de DATACIENCIA

Citas Identificadas: 1.31 %
Citas No-identificadas: 98.69 %

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Citas identificadas: Las citas provienen de documentos incluidos en la base de datos de DATACIENCIA

Citas Identificadas: 1.31 %
Citas No-identificadas: 98.69 %

Financiamiento



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

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Agradecimientos



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.

Muestra la fuente de financiamiento declarada en la publicación.