ABSTRACT
Biallelic pathogenic mutations of the LAMA2 gene result in congenital muscular dystrophy type 1A (CMD1A). The patient in this study was a boy aged 19 months, with the clinical manifestations of motor development delay and increases in the serum levels of creatine kinase, aminotransferases, and lactate dehydrogenase. Genetic analysis showed that the patient had compound heterozygous mutations in the LAMA2 gene, among which c.7147C>T (p.Ala2383Ter) from his mother was a known nonsense mutation, and c.8551_8552insAA (p.Ile2852ArgfsTer2) from his father was a frameshift mutation which had never been reported before and was identified as a pathogenic mutation based on the ACMG guideline. The boy was confirmed with CMD1A. A literature review of related articles in China and overseas revealed that most children with CMD1A have disease onset within 6 months after birth, with the features of motor developmental delay, elevated serum creatine kinase, and white matter impairment on imaging examination. The mutations of the LAMA2 gene have remarkable heterogeneity, the majority of which are null mutations. There are no specific treatment methods for CMD1A currently, and children with CMD1A usually have a poor long-term prognosis.