Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.

ABSTRACT:

Background

Congenital muscular dystrophy type 1A (MDC1A), also termed merosin-deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogenic variants found in the Leiden Open Variant Database, the majority are truncating mutations leading to complete LAMA2 loss of function, but multiple copy number variants (CNVs) have also been reported with variable frequency.

Methods

We collected a cohort of individuals diagnosed with likely MDC1A and sought to identify both single nucleotide variants and small and larger CNVs via exome sequencing by extending the analysis of sequencing data to detect splicing changes and CNVs.

Results

Standard exome analysis identified multiple novel

SUBMITTER: Cauley ES 

PROVIDER: S-EPMC7667317 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature