Analysis of FOXO3 mutation in 114 Chinese women with premature ovarian failure.
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.
Wang
Binbin
B
Graduate School, Peking Union Medical College, Beijing, PR China.
Mu
Yuan
Y
Ni
Feng
F
Zhou
Sirui
S
Wang
Jing
J
Cao
Yunxia
Y
Ma
Xu
X
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*
C499517:FOXO3 protein, human; D000071316:Forkhead Box Protein O3; D051858:Forkhead Transcription Factors