Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation.

ABSTRACT: Congenital myasthenic syndrome (CMS) is a neuromuscular transmission disorder caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene mutation is characterized by episodic apnoea. To date, 52 cases of CMS caused by CHAT gene mutations have been reported. Here, we report a neonate with the third hemizygous mutation [a 4.9 Mb deletion [10q11.22-10q11.23 (chr10: 46123781-51028772)] containing the whole CHAT gene and c.1976A>T (p.Gln659Leu in the CHAT gene)]. The c.1976A>T (p.Gln659Leu) variant had not been reported in the ExAC or gnomAD databases and was predicted to be pathogenic. The alignment of amino acid sequences revealed that glutamine at codon 659 is highly conserved in different species and ca

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC7198756 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature