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Article

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.

eLife - 12 Dec 2017

Fouquet Baptiste, Pawlikowska Patrycja, Caburet Sandrine, Guigon Celine, Mäkinen Marika, Tanner Laura, Hietala Marja, Urbanska Kaja, Bellutti Laura, Legois Bérangère, Bessieres Bettina, Gougeon Alain, Benachi Alexandra, Livera Gabriel, Rosselli Filippo, Veitia Reiner A, Misrahi Micheline

Abstract excerpt

Primary Ovarian Insufficiency (POI) affects ~1% of women under forty. Exome sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM, leading to a truncated protein (p.Gln1701*). FANCM is a DNA-damage response gene whose heterozygous mutations predispose to breast cancer. Compared to the mother's cells, the patients' lymphocytes displayed higher levels of basal and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29231814
DOI: 10.7554/eLife.30490
PMCID: PMC5764568

Genes

FANCM
FANCD2

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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A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.PMID 29231814Read ↗

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