Primary ovarian insufficiencyGene: FANCM
2 Finnish sisters with non-syndromic POI with a homozygous mutation (p.Gln1701*), and supporting functional assays. 1 case with 2 truncating variants (phase unknown) and non-syndromic POI and MMC chromosome-induced breakage. 3/5 women with homozygous truncating variants and breast cancer also reported early menopause or ovarian insufficiency. Null mouse model demonstrates significant reduction in ovarian follicles.
Created: 7 Jan 2021, 8:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Premature ovarian failure
gene: FANCM was added gene: FANCM was added to Primary ovarian insufficiency. Sources: Literature Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCM were set to 30075111; 29895858; 28837162 Phenotypes for gene: FANCM were set to Premature ovarian failure Review for gene: FANCM was set to GREEN