title: Growth differentiating factor-9 mutations may be associated with premature ovarian failure.
abstract: OBJECTIVE
  To determine whether perturbations of the growth differentiating factor-9 (GDF9) gene are associated with premature ovarian failure (POF).
  
  
  METHODS
  Mutational analysis of the GDF9 gene in 61 women with POF.
  
  
  METHODS
  Academic institution.
  
  
  METHODS
  Sixty-one women with POF; 60 control women.
  
  
  METHODS
  Peripheral blood sampling, genomic DNA extraction, mutational screening, and DNA sequencing.
  
  
  METHODS
  Genetic perturbations in GDF9 that are associated with POF.
  
  
  RESULTS
  A single missense mutation, substitution of a cytosine residue with thymidine in exon 1 of GDF9, was found in a white woman in whom POF developed at age 22. This mutation occurred in a highly conserved proprotein region and resulted in replacement of a nonpolar amino acid (proline) with a polar amino acid (serine) at position 103. Neither 60 control women nor 60 other women with POF demonstrated this genetic perturbation. Exon 2 showed only previously recognized single nucleotide polymorphisms.
  
  
  CONCLUSIONS
  GDF9 mutations may be one explanation for POF, albeit uncommon.
authors.affiliation: Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: Ertug
authors.initials: E
authors.lastname: Kovanci
authors.forename: Jan
authors.initials: J
authors.lastname: Rohozinski
authors.forename: Joe Leigh
authors.initials: JL
authors.lastname: Simpson
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Heard
authors.forename: Colin E
authors.initials: CE
authors.lastname: Bishop
authors.forename: Sandra A
authors.initials: SA
authors.lastname: Carson
mesh_terms: D000328:Adult; D055430:Bone Morphogenetic Protein 15; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D055429:Growth Differentiation Factor 9; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D016649:Primary Ovarian Insufficiency / Q000453:epidemiology* / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D013223:Statistics as Topic; D014481:United States / Q000453:epidemiology
chemical_list: C525901:BMP15 protein, human; D055430:Bone Morphogenetic Protein 15; C525897:GDF9 protein, human; D055429:Growth Differentiation Factor 9; D036341:Intercellular Signaling Peptides and Proteins