Clinical and genetic variation analysis of 97 patients with Duchenne muscular dystrophy / 中国实用儿科杂志

ABSTRACT

OBJECTIVE:(DMD),summarize the gene mutation hotspots in 97 cases and to explore the correlation between clinical manifestations and genotype. METHODS: Totally 97 patients with DMD diagnosed by genetic examination from January 2014 to 2018 were collected and analyzed. The clinical manifestations,serum analyses and gene mutation results were analyzed. RESULTS: The main clinical manifestations of 97 patients(96 boys)were feeding difficulties,increased muscle enzyme and limb weakness.Creatine kinase(CK),lactate dehydrogenase(LDH)and aspartate aminotransferase(AST)muscle enzymes were significantly increased. By combining deep-sequencing technologies,the large deletions of DMD gene mutation was in 62 cases(63.92%);there were 11 cases(11.34%)of large duplication mutation,and 24 cases(24.74%)of point mutation. All of the mutations could occur in any position in the DMD gene,but there were two hot spots;45 cases were located in the central region gene exon 45～55(72.58%);12 cases of deletion mutation were located in 5'exon end exon 2～19 area(19.35%). CONCLUSION: The main clinical manifestations of the DMD children are feeding difficulty,increased muscle enzyme and limb weakness.The patients with significantly increased muscle enzyme should receive a timely defection of DMD gene.