Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy.

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy. Channels (Austin). 2019 Dec;13(1):153-161 Authors: Carter MT, McMillan HJ, Tomin A, Weiss N Abstract Neuromuscular disorders encompass a wide range of conditions often associated with a genetic component. In the present study, we report a patient with severe infantile-onset amyotrophy in whom two compound heterozygous variants in the gene CACNA1H encoding for Cav3.2 T-type calcium channels were identified. Functional analysis of Cav3.2 variants revealed several alterations of the gating properties of the channel that were in general consistent with a loss-of-channel function. Taken together, these findings suggest that severe congenital amyoplasia may be related to CACNA1H and would represent a new phenotype associated with mutations in this gene. PMID: 31070086 [PubMed - in process]
Source: Channels - Category: Molecular Biology Tags: Channels (Austin) Source Type: research