Growth differentiating factor-9 mutations may be associated with premature ovarian failure Article

Kovanci, E, Rohozinski, J, Simpson, JL et al. (2007). Growth differentiating factor-9 mutations may be associated with premature ovarian failure . 87(1), 143-146. 10.1016/j.fertnstert.2006.05.079



cited authors

  • Kovanci, E; Rohozinski, J; Simpson, JL; Heard, MJ; Bishop, CE; Carson, SA

fiu authors

abstract

  • Objective: To determine whether perturbations of the growth differentiating factor-9 (GDF9) gene are associated with premature ovarian failure (POF). Design: Mutational analysis of the GDF9 gene in 61 women with POF. Setting: Academic institution. Patient(s): Sixty-one women with POF; 60 control women. Intervention(s): Peripheral blood sampling, genomic DNA extraction, mutational screening, and DNA sequencing. Main Outcome Measure(s): Genetic perturbations in GDF9 that are associated with POF. Result(s): 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. Conclusion(s): GDF9 mutations may be one explanation for POF, albeit uncommon. © 2007 American Society for Reproductive Medicine.

publication date

  • January 1, 2007

Digital Object Identifier (DOI)

start page

  • 143

end page

  • 146

volume

  • 87

issue

  • 1