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...
Main Authors: | , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
eLife Sciences Publications Ltd
2017-12-01
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Series: | eLife |
Subjects: | |
Online Access: | https://elifesciences.org/articles/30490 |