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

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

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 br...

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Bibliographic Details
Main Authors: Baptiste Fouquet, Patrycja Pawlikowska, Sandrine Caburet, Celine Guigon, Marika Mäkinen, Laura Tanner, Marja Hietala, Kaja Urbanska, Laura Bellutti, Bérangère Legois, Bettina Bessieres, Alain Gougeon, Alexandra Benachi, Gabriel Livera, Filippo Rosselli, Reiner A Veitia, Micheline Misrahi
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2017-12-01
Series:eLife
Subjects:
primary ovarian insufficiency
FANCM
exome sequencing
mutation
Mitomycin C
replication inhibitor
Online Access:https://elifesciences.org/articles/30490

Internet

https://elifesciences.org/articles/30490

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