Analysis of two Chinese Han families with Duchenne/Becker muscular dystrophy
10.3969/j.issn.1674-8115.2018.10.016
- Author:
Sha HONG
1
Author Information
1. Department of Neonatal Medicine, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
- Publication Type:Journal Article
- Keywords:
Creatine kinase;
Duchenne/Becker muscular dystrophy;
Dystrophin gene;
Fraternal twins;
Gene mutation;
Multiplex ligation-dependent probe amplification (MLPA)
- From:
Journal of Shanghai Jiaotong University(Medical Science)
2018;38(10):1223-1228
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To deepen the understanding of Duchenne/Becker muscular dystrophy by investigating dystrophin (DMD) gene variants in 2 Chinese Han families with this disease. Methods: Retrospective analysis of the clinical characteristics of the probands in two families with Duchnne/ Becker muscular dystrophy and the results of multiplex ligation-dependent probe amplification (MLPA) for the probands and their relatives was performed. Results: Three probands were identified by significantly-elevated creatine kinase levels. Two probands in family one are fraternal twin brothers with the same deletions of exons 8-9, while their mother has no abnormality at this site. The proband in family two is the little brother in a pair of fraternal twins with duplication of exons 48-51, and his mother has heterozygous duplication of exons 48-51. Conclusion: ① The presence of the same DMD gene mutation in the fraternal twins suggests that the mother may be a gonad chimera with this mutation if her gene detection of peripheral blood is normal. The mother must undergo prenatal gene diagnosis to reduce the risk of Duchenne/Becker muscular dystrophy in her offsprings. ② The exons 48-51 duplication of DMD gene is pathogenic mutation.
