Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI.

The autosomal recessive congenital muscular dystrophy type 1A (MDC1A) results from a variety of mutations, either missense, nonsense, deletions or splice site variants, in the LAMA2 gene [1]. The LAMA2 gene, comprising 65 exons, encodes the α2 chain subunit of laminin-2 (merosin). Generally, complete absence of the laminin α2 chain leads to a very severe disease course, while partial deficiency results in a variety of milder phenotypes [2,3]. Accordingly, skeletal muscles of MDC1A patients show, depending on complete or partial absen ce of the laminin-α2 chain, either severe dystrophic features such as muscle degeneration and regeneration, inflammation, atrophy and fibrosis, or milder myopathic features [4].

Source: Neuromuscular Disorders - April 9, 2019 Category: Neurology Authors: Simona Saredi, Sara Gibertini, Leslie Matalonga, Laura Farina, Anna Ardissone, Isabella Moroni, Marina Mora Tags: Case report Source Type: research