Fig. 2: Overview of P/LP variants identified in known POI genes.
From: Landscape of pathogenic mutations in premature ovarian insufficiency
a, Allele counts of P/LP variants detected in 59 of 95 known POI genes, including both novel and reported variants. Previously reported variants are those identified to be damaging according to ClinVar or published studies. b, Contribution yield of known POI-causative genes in 1,030 patients. c, The proportion of each mode of inheritance in the 193 patients carrying P/LP variants in known POI genes. d, The proportional contribution of each gene among 193 cases. e, The proportion of patients classified according to annotated function of the affected genes. ‘Oogenesis’ indicates genes involved in meiotic prophase I and HR. ‘Others’ indicates genes involved in the regulation of energy, metabolism and autoimmunity. ‘Multi-function’ refers to mutations in genes implicated in multiple pathways. f, The contribution rate of mode of inheritance in patients with PA and SA. g, The prevalences of P/LP variants in cases with PA and SA are shown for 15 genes detected in more than five cases.
