STAG3 中的双等位基因功能丧失变异导致原发性卵巢功能不全。
Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.
机构信息
Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Hanze University of Applied Sciences, Groningen, the Netherlands.
出版信息
Reprod Biomed Online. 2021 Nov;43(5):899-902. doi: 10.1016/j.rbmo.2021.07.003. Epub 2021 Jul 16.
RESEARCH QUESTION
Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21-year-old woman with primary amenorrhoea?
DESIGN
A karyotype and genetic testing for Fragile X syndrome was undertaken. A next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted.
RESULTS
A nonsense variant c.1336G>T, p.(Glu446Ter) and whole gene deletion in STAG3 were identified.
CONCLUSIONS
Biallelic loss of function variants in STAG3 are associated with primary ovarian failure type 8 and are a rare cause of POI.
研究问题
一位 21 岁原发性闭经的原发性卵巢功能不全（POI）患者的诊断是否存在遗传状况？
设计
进行了核型分析和脆性 X 综合征的基因检测。进行了与综合征和非综合征 POI 相关的 24 个基因的下一代测序面板。
结果
发现了 STAG3 中的无义变异 c.1336G>T，p.(Glu446Ter)和全基因缺失。
结论
STAG3 的双等位基因功能丧失变异与原发性卵巢衰竭 8 型相关，是 POI 的罕见原因。
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