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Article

Mutant cohesin in premature ovarian failure.

The New England journal of medicine - 6 Mar 2014

Caburet Sandrine, Arboleda Valerie A, Llano Elena, Overbeek Paul A, Barbero Jose Luis, Oka Kazuhiro, Harrison Wilbur, Vaiman Daniel, Ben-Neriah Ziva, García-Tuñón Ignacio, Fellous Marc, Pendás Alberto M, Veitia Reiner A, Vilain Eric

Abstract excerpt

Premature ovarian failure is a major cause of female infertility. The genetic causes of this disorder remain unknown in most patients. Using whole-exome sequence analysis of a large consanguineous family with inherited premature ovarian failure, we identified a homozygous 1-bp deletion inducing a frameshift mutation in STAG3 on chromosome 7. STAG3 encodes a meiosis-specific subunit of the cohesin ring, which...

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Identifiers

PMID: 24597867
DOI: 10.1056/NEJMoa1309635
PMCID: PMC4068824

Genes

STAG3

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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