title: Identification of novel missense mutations of GDF9 in Chinese women with polycystic ovary syndrome.
abstract: The gene for growth differentiation factor 9 (GDF9) is expressed in human oocytes and has an important function in regulating early follicle growth and fertility. Polycystic ovary syndrome (PCOS) is one of the common defects that causes ovary dysfunction and is linked to aberrant processes in folliculogenesis. Previous studies have discovered several mutations in the screening of GDF9 in premature ovarian failure but none in PCOS. This current study focused on the mutational analysis of the coding region of GDF9 among 216 Chinese PCOS patients. Of the 10 different variants found in this study, five novel missense mutations in GDF9 were discovered namely c.15C>G, c.118T>G, c.133A>G, c.1025A>T and c.1275C>A. The above-mentioned mutations indicate GDF9 may be potentially associated with PCOS patients. As far as is known, this study is the first to provide evidence for such an association.
authors: National Research Institute for Family Planning, Beijing 100081, China; Peking Union Medical College, Beijing, China.
authors: Binbin
authors: B
authors: Wang
authors: Sirui
authors: S
authors: Zhou
authors: Jing
authors: J
authors: Wang
authors: Jingjing
authors: J
authors: Liu
authors: Feng
authors: F
authors: Ni
authors: Jinting
authors: J
authors: Yan
authors: Yuan
authors: Y
authors: Mu
authors: Yunxia
authors: Y
authors: Cao
authors: Xu
authors: X
authors: Ma
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D002681:China; D017931:DNA Primers / Q000235:genetics; D005260:Female; D055429:Growth Differentiation Factor 9 / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D055815:Young Adult
chemical_list: D017931:DNA Primers; C525897:GDF9 protein, human; D055429:Growth Differentiation Factor 9