Growth differentiating factor-9 mutations may be associated with premature ovarian failure.
Nyckelord
Abstrakt
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.
