关键词: ITGA7基因； 整合素α7； 先天性肌病

Abstract: Objective To investigate the clinical characteristics of rare congenital myopathy caused by integrin alpha- 7 (ITGA 7 ) gene variation. Methods The clinical data of a child with congenital myopathy caused by ITGA 7 gene variation was analyzed retrospectively, and the relevant literature were reviewed. Results A 10 years and 9 months old boy developed the disease when he was 5 years old, and the main manifestations were squatting difficulties and mild achilles tendon contracture, without obvious muscle weakness and cognitive impairment, and the disease progressed slowly. Serum creatine kinase was slightly elevated and the electromyography suggested myogenic damage in some muscles. Whole exon sequencing revealed that homozygous frameshift variation of c. 1100 dupG was found in ITGA7 gene, and both parents were heterozygous at this locus. The scores of American College of Medical Genetics and Genomics (ACMG) were PVS 1 , PM 2 and PP 5 , indicating its pathogenicity. Conclusions The myopathy associated with ITGA7 gene variation varies in severity. In mild cases, the progression was slow, and the main manifestations were motor development retardation and abnormal gait. Severe cases have early onset and rapid progression, with muscle weakness as the main manifestation. Serum creatine kinase were only slightly increased or normal in all patients.

Key words: ITGA7 gene; integrin alpha- 7 ; congenital myopathy