Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA, USA.
The Third Xiangya Hospital, Central South University, Changsha, China.
J Assist Reprod Genet. 2019 Jan;36(1):39-45. doi: 10.1007/s10815-018-1349-4. Epub 2018 Nov 7.
To investigate the potential genetic etiology of premature ovarian insufficiency (POI).
Whole-exome sequencing (WES) was done on DNA samples from women diagnosed with POI. Mutations identified were analyzed by in silico tools and were annotated according to the guidelines of the American College of Medical Genetics and Genomics. Plausible variants were confirmed by Sanger sequencing.
Four of the 33 individuals (12%) carried pathogenic or likely pathogenic variants, and 6 individuals carried variants of unknown significance. The genes identified with pathogenic or likely pathogenic variants included PMM2, MCM9, and PSMC3IP.
WES is an efficient tool for identifying gene variants in POI women; however, interpretation of variants is hampered by few exome studies involving ovarian disorders and the need for trio sequencing to determine inheritance and to detect de novo variants.
探讨卵巢早衰（POI）的潜在遗传病因。
对诊断为 POI 的女性的 DNA 样本进行全外显子组测序（WES）。通过计算机工具分析鉴定出的突变，并根据美国医学遗传学与基因组学学院的指南进行注释。通过 Sanger 测序证实了可能的变异。
33 名个体中有 4 名（12%）携带致病性或可能致病性变异，6 名个体携带意义不明的变异。鉴定出的具有致病性或可能致病性变异的基因包括 PMM2、MCM9 和 PSMC3IP。
WES 是识别 POI 女性基因变异的有效工具；然而，由于涉及卵巢疾病的外显子组研究较少，以及需要进行三核苷酸测序以确定遗传和检测新生变异，因此对变异的解释受到阻碍。
