Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature-Reference-Cited by-同舟云学术

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature

Published:2018 Issue:6 Volume:9 Page:287-294
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Behunova Jana,Gerykova Bujalkova Maria,Gras Gabriel,Taylor Thomas,Ihm Ulrike,Kircher Susanne,Rehder Helga,Laccone Franco

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Alisch F, Weichert A, Kalche K, Paradiso V, Longardt AC, et al: Familial Gordon syndrome associated with a PIEZO2 mutation. Am J Med Genet A 173:254-259 (2017).

2. Chesler AT, Szczot M, Bharucha-Goebel D, Čeko M, Donkervoort S, et al: The role of PIEZO2 in human mechanosensation. N Engl J Med 375:1355-1364 (2016).

3. Coste B, Mathur J, Schmidt M, Earley TJ, Ranade S, et al: Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels. Science 330:55-60 (2010).

4. Coste B, Houge G, Murray MF, Stitziel N, Bandell M, et al: Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of distal arthrogryposis. Proc Natl Acad Sci USA 110:4667-4672 (2013).

5. Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, et al: Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis. Am J Hum Genet 99:1206-1216 (2016).

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4. Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype–Phenotype Review from a Single-Center Experience;Journal of Pediatric Genetics;2023-02-24

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