Original article (Clinical research)

Analysis of two Chinese Han families with Duchenne/Becker muscular dystrophy

  • HONG Sha1 ,
  • ZHAO Dong-ying1 ,
  • XIE Li-juan1 ,
  • CHANG Guo-ying2 ,
  • LIU Xiao-qing3 ,
  • ZHU Tian-wen1
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  • 1. Department of Neonatal Medicine, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China; 2. Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China; 3. Shanghai Institute for Pediatric Research; Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China

Online published: 2018-11-18

Abstract

Objective · To deepen the understanding of Duchenne/Becker muscular dystrophyinvestigating 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 identifiedsignificantly-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.

Cite this article

HONG Sha1 , ZHAO Dong-ying1 , XIE Li-juan1 , CHANG Guo-ying2 , LIU Xiao-qing3 , ZHU Tian-wen1 . Analysis of two Chinese Han families with Duchenne/Becker muscular dystrophy[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2018 , 38(10) : 1223 . DOI: 10.3969/j.issn.1674-8115.2018.10.016

Outlines

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