Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Autor:	McMillin MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Beck AE; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA., Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Shively KM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Buckingham KJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Gildersleeve HI; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Aracena MI; Genetic Unit, Hospital Dr. Luis Calvo Mackenna, Santiago 7500539, Chile; Division of Pediatrics, Pontificia Universidad Católica de Chile, Santiago 8330074, Chile., Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Bitoun P; Service de Pédiatrie, Hôpital Jean Verdier, Assistance Publique - Hôpitaux de Paris, Bondy 93143, France., Carey JC; Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA., Clericuzio CL; Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA., Crow YJ; Manchester Academic Health Science Centre and University of Manchester, Manchester M13 9NT, UK., Curry CJ; Genetic Medicine Central California, University of California, San Francisco, Fresno, CA 93701, USA., Devriendt K; Centre for Human Genetics, University Hospitals KU Leuven, 3000 Leuven, Belgium., Everman DB; Greenwood Genetic Center, Greenwood, SC 29646, USA., Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital, Liverpool L12 2AP, UK., Gibson K; Genetic Health Service New Zealand, Christchurch Hospital, Christchurch 8140, New Zealand., Giovannucci Uzielli ML; Genetics and Molecular Medicine, Dipartimento di Scieze della Salute, University of Florence, Florence 50132, Italy., Graham JM Jr; Division of Clinical Genetics and Dysmorphology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Hall JG; Departments of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC V6H 3N1, Canada., Hecht JT; Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA., Heidenreich RA; Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA., Hurst JA; North East Thames Regional Genetic Service, Great Ormond Street Hospital, London WC1N 3BH, UK., Irani S; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU, UK., Krapels IP; Department of Clinical Genetics, School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht 6229 GR, the Netherlands., Leroy JG; Princess Elisabeth Children's Hospital, Ghent University Hospital, 9000 Ghent, Belgium., Mowat D; Department of Medical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia; School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Sydney, NSW 2052, Australia., Plant GT; National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK., Robertson SP; Department of Women's and Children's Health, University of Otago, Dunedin 9054, New Zealand., Schorry EK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Scott RH; North East Thames Regional Genetic Service, Great Ormond Street Hospital, London WC1N 3BH, UK., Seaver LH; Department of Pediatrics, University of Hawai'i John A. Burns School of Medicine, Honolulu, HI 96826, USA., Sherr E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA., Splitt M; Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NE1 3BZ, UK., Stewart H; Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 7LJ, UK., Stumpel C; Department of Clinical Genetics, School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht 6229 GR, the Netherlands., Temel SG; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa 16059, Turkey; Department of Histology & Embryology, Faculty of Medicine, Uludag University, Bursa 16059, Turkey; Department of Histology & Embryology, Faculty of Medicine, Near East University, TRNC Mersin 10, Turkey., Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Whiteford M; Department of Clinical Genetics, Southern General Hospital, Glasgow G51 4TF, UK., Williams MS; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA., Tabor HK; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, WA 98101, USA., Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: mbamshad@uw.edu.
Jazyk:	angličtina
Zdroj:	American journal of human genetics [Am J Hum Genet] 2014 May 01; Vol. 94 (5), pp. 734-44. Date of Electronic Publication: 2014 Apr 10.
DOI:	10.1016/j.ajhg.2014.03.015
Abstrakt:	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. (Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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