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Article

Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency.

Journal of assisted reproduction and genetics - 1 Feb 2020

Peng Tianliu, Lv Chao, Tan Hangjing, Huang Jiafeng, He Hailun, Wang Yan, Zeng Minghua, Yi Dajing, Li Jie, Deng Hongwen, Shi Xiaobo, Xiao Hongmei

Abstract excerpt

PURPOSE: This study sought to identify a disease-related gene in a consanguineous Chinese family in which there were two premature ovarian insufficiency (POI) sisters. METHOD: We used whole-exome sequencing and Sanger sequencing to identify the disease-causing gene. Results were verified using an assay of mutant protein and in silico analyses. RESULT: We identified a novel missense mutation (NM_000303: c.556G>A,...

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Source

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Identifiers

PMID: 31902100
DOI: 10.1007/s10815-019-01675-8
PMCID: PMC7056801

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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