Article
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
American journal of medical genetics. Part A - 1 Nov 2017
Thibodeau My Linh, Peters Colin H, Townsend Katelin N, Shen Yaoqing, Hendson Glenda, Adam Shelin, Selby Kathryn, Macleod Patrick M, Gershome Cynthia, Ruben Peter, Jones Steven J M, Friedman Jan M, Gibson William T, Horvath Gabriella A
Abstract excerpt
TRPV4 encodes a polymodal calcium-permeable plasma membrane channel. Dominant pathogenic mutations in TRPV4 lead to a wide spectrum of abnormal phenotypes. This is the first report of biallelic TRPV4 mutations and we describe two compound heterozygous siblings presenting with a complex phenotype including severe neuromuscular involvement. In light of previously well described dominant inheritance for...
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