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.
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.
Authors: Scott Convissar; Marah Armouti; Michelle A Fierro; Nicola J Winston; Humberto Scoccia; A Musa Zamah; Carlos Stocco Journal: Reproduction Date: 2017-09-05 Impact factor: 3.906
Authors: Luciana Ochuiuto Teixeira de Resende; Alessandra Aparecida Vireque; Laura Ferreira Santana; Daniel Antunes Moreno; Ana Carolina Japur de Sá Rosa e Silva; Rui Alberto Ferriani; Carlos Alberto Scrideli; Rosana Maria Reis Journal: J Assist Reprod Genet Date: 2012-07-24 Impact factor: 3.412