A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report.

ABSTRACT: Merosin deficient congenital muscular dystrophy type 1A (MDC1A) is caused by defects in the LAMA2 gene. Patients with MDC1A exhibit severe symptoms, including congenital hypotonia, delayed motor development and contractures. The present case report describes a Vietnamese male child with clinical manifestations of delayed motor development, limb-girdle muscular dystrophy, severe scoliosis and white matter abnormality in the brain. Whole exome sequencing (WES) was performed with subsequent validation using Sanger sequencing, and a de novo missense variant (NM_000426.3:c.1964T>C, p.Leu655Pro) and a splice site variant (NG_008678.1:c.3556-13T>A) in the LAMA2 gene of the proband was detected. The missense variant located in exon 14 and has not been reported previously, to t

SUBMITTER: Tran KT 

PROVIDER: S-EPMC6951223 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature