A novel C-terminal truncating NR5A1 mutation in dizygotic twins.
A novel C-terminal truncating NR5A1 mutation in dizygotic twins.
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DOI：
10.1038/hgv.2017.8
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发表时间：
2017
影响因子：
1.5
通讯作者：
Fukami M
中科院分区：
文献类型：
--
作者：
Hattori A;Zukeran H;Igarashi M;Toguchi S;Toubaru Y;Inoue T;Katoh-Fukui Y;Fukami M
核受体亚家族5，A组，成员1 （NR5A1）是参与性腺和肾上腺发育的核受体。我们在患有46，xy性发育障碍的异卵双胞胎中发现了一种新的c端截断NR5A1突变p.Leu423Trpfs*7。我们的研究结果强调了NR5A1 c端区域的功能重要性，并表明NR5A1突变可能与家族内表型变异、进行性睾丸功能障碍、促性腺功能减退和交界性肾上腺功能障碍有关。
Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional importance of C-terminal region of NR5A1 and indicate that NR5A1 mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic hypogonadism, and borderline adrenal dysfunction.