Clinical, molecular pathological and genetic analyses of a Chinese family with congenital muscular dystrophy type 1A / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze and characterize the clinical, molecular pathological and genetic features of a Chinese family with congenital muscular dystrophy type 1A (MDC1A).</p><p><b>METHODS</b>Clinical data of the proband and her family members were collected. Immunohistochemistry staining was performed on muscular biopsy tissues with anti-merosin, alpha-dystroglycan, beta-dystroglycan and dystrophin antibodies. Genomic DNAs from the patient and her parents were extracted using standard procedures from the peripheral blood leukocytes. PCR and DNA direct sequencing were employed to analyze all of the 65 exons of the LAMA2 gene to determine the gene mutation, and the relationships between genotype and phenotype were analyzed.</p><p><b>RESULTS</b>The proband presented with delayed motor development and a myopathic face. Her midrange elevated serum creatine kinase (CK) levels and white matter signal intensity changes are consistent with MDC1A, and was clinically diagnosed as MDC1A. The immunohistochemistry analysis for the proband exhibited complete loss of merosin staining. Further test with PCR detected a homozygous mutation of c.817A>T in exon 5, while her parents were heterozygotes for the mutation.</p><p><b>CONCLUSION</b>The authors have defined the clinical manifestation of the Chinese family with MDC1A. The proband carried a homozygous nonsense mutation c.817A>T, and her parents were heterozygous carriers, consistent with autosomal recessive inheritance.</p>