Gene variability analysis of a family with Duchenne muscular dystrophy and genetic counseling

Objective By analyzing the genetic variability of Duchenne muscular dystrophy in three generations of a family, the significance of genetic diagnosis for genetic counseling is manifested. Methods Multiplex ligation-dependent probe amplification (MLPA) was used for genetic testing of proposituswith Duchenne muscular dystrophy and their relatives. Results The third generation: the propositus's gene test result was DMD gene DP427c, exon 1 deletion mutation. His younger brother also carries the same gene, and his cousin gene was detected without abnormalities. The second generation, namely propositus's mother, aunt and the first generation, propositus's grandmother, the gene test result was DMD gene DP427c, exon 1 heterozygous deletion variation. All of them are pathogenic gene carriers with no clinical symptoms. After propositus and his younger brother were diagnosed with DMD, their mother had two pregnancies by genetic counseling, and the amniotic fluid shedding cells were detected as male fetuses. All of them had the same gene deletion mutation as the propositus and chose to terminate the pregnancy. Conclusion DMD Gene DP427c, exon 1 deletion variation is pathogenic variation. The mother, aunt and grandmother of the propositus are all DMD gene DP427c, exon 1 deletion variation, and they are the carriers of the pathogenic gene. Genetic testing is an important method for diagnosing Duchenne muscular dystrophy, which is beneficial to improve the diagnostic level of the disease. Early genetic counseling and prenatal diagnosis can reduce the risk of Duchenne muscular dystrophy in offspring. Key words: Duchenne muscular dystrophy; Creatine kinase; Dystrophin gene; Gene deletion variation; Genetic counseling