Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder. Here, we report a novel mechanism for the occurrence of DMD in females. In a Vietnamese DMD girl, conventional PCR amplification analysis disclosed a deletion of exons 12-19 of the dystrophin gene on Xp21.2, with a karyotype of 46,...

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Bibliographic Details
Published in:Human genetics 2006-06, Vol.119 (5), p.516-519
Main Authors: KATAYAMA, Yoshinori, VAN KHANH TRAN, NGUYEN THI HOAN, ZHUJUN ZHANG, GOJI, Katsumi, YAGI, Mariko, TAKESHIMA, Yasuhiro, SAIKI, Kayoko, NGUYEN THU NHAN, MATSUO, Masafumi
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Cell receptors
Cell structures and functions
Child
Classical genetics, quantitative genetics, hybrids
Diseases of striated muscles. Neuromuscular diseases
Disorders of Sex Development - genetics
Dystrophin - genetics
Female
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Human
Humans
Male
Medical sciences
Miscellaneous
Molecular and cellular biology
Muscular Dystrophy, Duchenne - genetics
Mutation
Neurology
Receptors, Androgen - genetics
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Summary:Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder. Here, we report a novel mechanism for the occurrence of DMD in females. In a Vietnamese DMD girl, conventional PCR amplification analysis disclosed a deletion of exons 12-19 of the dystrophin gene on Xp21.2, with a karyotype of 46, XY. Furthermore, a novel mutation in the androgen-receptor gene on Xq11.2-q12 was identified in this girl, which led to male pseudohermaphroditism. Co-occurrence of mutations of these two genes constitutes a novel mechanism underlying female DMD.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-006-0159-4