De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.

ABSTRACT:

Background

Arthrogryposis multiplex congenita (AMC) is the direct consequence of reduced fetal movements. AMC includes a large spectrum of diseases which result from variants in genes encoding components required for the formation or the function of the neuromuscular system. AMC may also result from central nervous involvement. SCN1A encodes Nav1.1, a critical component of voltage-dependent sodium channels which underlie action potential generation and propagation. Variants of SCN1A are known to be responsible for Dravet syndrome, a severe early-onset epileptic encephalopathy. We report pathogenic heterozygous missense de novo variants in SCN1A in three unrelated individuals with AMC.

Methods

Whole-exome sequencing was performed from DNA of the index cas

SUBMITTER: Jaber D 

PROVIDER: S-EPMC8551978 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature