A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy.

Congenital muscular dystrophy (CMD) is a genetic muscle disorder characterised by muscle weakness and degeneration, either present at birth or emerging in middle age, often leading to progressive disability. MDC1A is a subtype of CMD caused by mutations in the LAMA2 gene. In this study, we investigated a family affected by CMD from a remote rural area. The proband exhibited typical muscle weakness symptoms, though with a delayed onset. By combining whole-exome sequencing with bioinformatics analysis, we explored the genetic aetiology of this family. A novel homozygous missense mutation (NM_000426: c.7412G>A; p.G2471D) of the LAMA2 gene was detected in the proband. The proband's parents were found to carry the heterozygous mutation. Bioinformatic analysis indicated that the amino acid residue is highly conserved and has low tolerance to variation, suggesting a high pathogenic potential of the mutation. Based on genetic analysis, the proband was subsequently diagnosed with MDC1A. In conclusion, a novel LAMA2 mutation was identified in a Chinese family with CMD. This discovery not only offers valuable insights for the patient's diagnosis and potential therapeutic strategies but also broadens the known spectrum of LAMA2 mutations.