GDF9 基因纯合截断变异导致的兄妹原发性卵巢功能不全
A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency.
机构信息
Department of Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC, 3050, Australia.
Department of Molecular Pathology, Royal Melbourne Hospital, Parkville, VIC, 3050, Australia.
出版信息
J Assist Reprod Genet. 2021 Jun;38(6):1539-1543. doi: 10.1007/s10815-021-02144-x. Epub 2021 Apr 1.
Premature or primary ovarian insufficiency (POI) affects approximately 1% of women and can be due to a variety of causes. Genetic causes include syndromic and non-syndromic POI. There are several promising candidate genes for whom a clear Mendelian association with non-syndromic POI has not yet been conclusively established, including GDF9. GDF9 is an oocyte-secreted factor and is part of the TGF-beta superfamily of morphogens. It has an important role in follicular development and granulosa cell maturation. We report the case of two siblings with primary ovarian insufficiency (POI) and a homozygous truncating variant in GDF9 (c.604C>T; p.(Gln202*). This report helps establish a clear gene-disease association between GDF9 and POI and argues for routine evaluation for GDF9 variants in patients undergoing genomic investigation for POI.
原发性或早发性卵巢功能不全（POI）影响约 1%的女性，其病因多种多样。遗传病因包括综合征型和非综合征型 POI。有几个有希望的候选基因，尽管它们与非综合征型 POI 有明确的孟德尔相关性，但尚未得到明确证实，其中包括 GDF9。GDF9 是一种卵母细胞分泌的因子，是转化生长因子-β（TGF-β）形态发生素超家族的一部分。它在卵泡发育和颗粒细胞成熟中起重要作用。我们报告了两例原发性卵巢功能不全（POI）的同胞患者，他们携带 GDF9 中的纯合截断变异（c.604C>T；p.(Gln202*）。本报告有助于在 GDF9 和 POI 之间建立明确的基因-疾病相关性，并主张对接受 POI 基因组研究的患者进行 GDF9 变异的常规评估。
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