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Article

Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency.

Clinical genetics - 1 Feb 2018

He W-B, Banerjee S, Meng L-L, Du J, Gong F, Huang H, Zhang X-X, Wang Y-Y, Lu G-X, Lin G, Tan Y-Q

Abstract excerpt

Primary ovarian insufficiency (POI) is the depletion or loss of normal ovarian function, which cause infertility in women before the age of 40 years. Two homozygous germline truncation mutations in STAG3 gene had been reported to causes POI in consanguineous families. Here, we aimed to identify the genetic cause of POI in 2 affected sisters manifested with primary amenorrhea and partial development of secondary...

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Source

Identifiers

PMID: 28393351
DOI: 10.1111/cge.13034

Genes

STAG3

Variants

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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