Germinal mosaicism for partial deletion of the <italic>Dystrophin</italic> gene in a family affected with Duchenne muscular dystrophy

Hai Xiao; Zhaojing Zhang; Tao LI; Qian Zhang; Qiannan Guo; Dong WU; Hongdan Wang; Mengting Zhang; Yue Gao; Shixiu Liao

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Germinal mosaicism for partial deletion of the Dystrophin gene in a family affected with Duchenne muscular dystrophy

VernacularTitle: DMD基因部分缺失型生殖腺嵌合体一例
Author: Hai XIAO ¹ ; Zhaojing ZHANG ² ; Tao LI ¹ ; Qian ZHANG ¹ ; Qiannan GUO ¹ ; Dong WU ¹ ; Hongdan WANG ¹ ; Mengting ZHANG ¹ ; Yue GAO ¹ ; Shixiu LIAO ¹
Author Information

1. Medical Genetics Institute of Henan Province, Henan Provincial People’s Hospital, Zhengzhou, Henan 450003, China
2. Department of Medical Genetics and Cell Biology, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, Henan 450003, China
Publication Type:Clinical Trail
Keywords: Dystrophin gene; Germline mosaicism; Prenatal diagnosis; Duchenne muscular dystrophy
From: Chinese Journal of Medical Genetics 2019;36(10):1015-1018
CountryChina
Language:Chinese
Abstract: Objective:To carry out genetic testing and prenatal diagnosis for a family affected with Duchenne muscular dystrophy (DMD).
Methods:Multiplex ligation dependent probe amplification (MLPA) was used to detect potential deletion and duplication of the Dystrophin gene. Haplotype analysis was performed using five short tandem repeat polymorphism loci (3'-STR, 5'-STR, 45-STR, 49-STR, 50-STR of the DMD gene.
Results:A same deletional mutation (exons 51-55) of the DMD gene was detected in two brothers but not in their mother. The patients and fetus have inherited different haplotypes of the Dystrophin gene from their mother, suggesting that the fetus was unaffected.
Conclusion:The mother was very likely to harbor germline mosaicism for the Dystrophin gene variant. Genetic testing of peripheral blood samples cannot rule out germline mosaicism in the mother. Prenatal diagnosis should be provided for subsequent pregnancies in this family.