Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy |
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| Authors: | Yoshinori Katayama Van Khanh Tran Nguyen Thi Hoan Zhujun Zhang Katsumi Goji Mariko Yagi Yasuhiro Takeshima Kayoko Saiki Nguyen Thu Nhan Masafumi Matsuo |
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| Affiliation: | (1) Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, 650-0017 Kobe, Japan;(2) Department of Pediatrics, National Children’s Hospital, Hanoi Medical University, Hanoi, Vietnam;(3) Department of Endocrinology and Metabolism, Kobe Children’s Hospital, 654-0081 Kobe, Japan |
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| Abstract: | 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. |
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