BMPR15 中的纯合错义变异可导致原发性卵巢功能不全。
Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency.
机构信息
Evolution, Infection and Genomics, 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, Infection and Genomics, 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. 2022 Oct;45(4):727-729. doi: 10.1016/j.rbmo.2022.05.003. Epub 2022 May 13.
RESEARCH QUESTION
Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 13-year-old girl with primary amenorrhoea?
DESIGN
A case report of a next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted.
RESULTS
A homozygous missense variant c.1076C>T, p.(Pro359Leu) in BMP15 was identified.
CONCLUSIONS
The biallelic variant c.1076C >T, p.(Pro359Leu) in BMP15 is associated with primary ovarian failure.
研究问题
一位 13 岁原发性闭经的女孩被诊断为原发性卵巢功能不全（POI），其是否存在遗传状况？
设计
对与综合征和非综合征 POI 相关的 24 个基因的下一代测序进行了病例报告。
结果
鉴定出 BMP15 中与 c.1076C>T，p.(Pro359Leu)纯合错义变异。
结论
BMP15 中的双等位基因变异 c.1076C>T，p.(Pro359Leu)与卵巢早衰有关。
Zotero 插件