title: Analysis of FOXO3 mutation in 114 Chinese women with premature ovarian failure.
abstract: This study screened FOXO3 coding regions for mutations in a sample of 114 Chinese women with premature ovarian failure and discovered six novel single-nucleotide variants: c.71C>A (p.Pro24His), c.140C>T (p.Pro47Leu), c.184G>A (p.Asp62Asn), c.1652C>T (p.Ser551Phe), c.1697C>G (p.Gly566Ala) and c.1185G>A (silent). The nonsynonymous single-nucleotide variants, c.71C>A (p.Pro24His), c.140C>T (p.Pro47Leu), c.184G>A (p.Asp62Asn), c.1652C>T (p.Ser551Phe) and c.1697C>G (p.Gly566Ala), were not detected in any of 100 controls. These missense mutations might cause abnormal oocyte apoptosis and primordial follicle activation, thereby adversely affecting early follicle depletion in the ovary.
authors.affiliation: Graduate School, Peking Union Medical College, Beijing, PR China.
authors.forename: Binbin
authors.initials: B
authors.lastname: Wang
authors.forename: Yuan
authors.initials: Y
authors.lastname: Mu
authors.forename: Feng
authors.initials: F
authors.lastname: Ni
authors.forename: Sirui
authors.initials: S
authors.lastname: Zhou
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Yunxia
authors.initials: Y
authors.lastname: Cao
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D005260:Female; D000071316:Forkhead Box Protein O3; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D020125:Mutation, Missense; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
chemical_list: C499517:FOXO3 protein, human; D000071316:Forkhead Box Protein O3; D051858:Forkhead Transcription Factors