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, 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.
Katayama
Yoshinori
Y
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, 650-0017, Kobe, Japan.
Tran
Van Khanh
VK
Hoan
Nguyen Thi
NT
Zhang
Zhujun
Z
Goji
Katsumi
K
Yagi
Mariko
M
Takeshima
Yasuhiro
Y
Saiki
Kayoko
K
Nhan
Nguyen Thu
NT
Matsuo
Masafumi
M
D000293:Adolescent; D002648:Child; D012734:Disorders of Sex Development / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation; D011944:Receptors, Androgen / Q000235:genetics*
C410798:AR protein, human; D016189:Dystrophin; D011944:Receptors, Androgen