期刊
EUROPEAN JOURNAL OF ENDOCRINOLOGY
卷 176, 期 5, 页码 K9-K14出版社
BIOSCIENTIFICA LTD
DOI: 10.1530/EJE-16-0968
关键词
-
资金
- Universite Paris Diderot
- Fondation pour la Recherche Medicale [DEQ20150331757]
- Fondation Maladies Rares [PJ1502024]
Context: PCOS is a heterogeneous condition characterized by hyperandrogenism and chronic anovulation and affects about 10% of women. Its etiology is poorly known, but a dysregulation of gonadotropin secretion is one of its hallmarks. Objective: As the etiology of PCOS is unclear, we have performed a genome-wide analysis of a consanguineous family with three sisters diagnosed with PCOS. Methods: Whole-exome sequencing and Sanger sequencing confirmation. Results: Whole-exome sequencing allowed the detection of the missense variant rs104893836 located in the first coding exon of the GNRHR gene and leading to the p.Gln106Arg (p.Q106R) substitution. Sanger sequencing of all available individuals of the family confirmed that the variant was homozygous in the three affected sisters and heterozygous in both parents. Conclusions: This is the first description of a GNRHR gene mutation in patients diagnosed with PCOS. Although we do not exclude a possible interaction of the identified variant with the genetic background and/or the environment, our result suggests that genetic alterations in the hypothalamo-pituitary axis may play role in the pathogenesis of PCOS.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据