Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy
Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy
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DOI：
10.1007/s00439-006-0159-4
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发表时间：
2006-06-01
期刊：
影响因子：
5.3
通讯作者：
Matsuo, M
中科院分区：
文献类型：
--
作者：
Katayama, Y;Tran, VK;Matsuo, M
杜氏肌营养不良症（DMD）是一种X连锁隐性遗传疾病。在这里，我们报告了女性DMD发生的一种新机制。在越南DMD女孩中，常规PCR扩增分析揭示了Xp21.2上肌营养不良蛋白基因的外显子12-19的缺失，核型为46，XY。此外，在这个女孩中发现了Xq11.2-q12雄激素受体基因的一个新突变，导致了男性假两性畸形。这两个基因突变的共同发生构成了女性DMD潜在的新机制。
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.