Mutation analysis of the PIN1 gene in 68 predominantly Caucasian patients with premature ovarian failure
Article
Richards, EG, Liu, Q, Gibbons, W et al. (2017). Mutation analysis of the PIN1 gene in 68 predominantly Caucasian patients with premature ovarian failure
. 62(6), 612-614.
Richards, EG, Liu, Q, Gibbons, W et al. (2017). Mutation analysis of the PIN1 gene in 68 predominantly Caucasian patients with premature ovarian failure
. 62(6), 612-614.
OBJECTIVE: PIN1 is a candidate gene for premature ovarian failure (POF). Knockout mice have a phenotype similar to POF in humans, with profound fertility defects and a reduced number of oocytes, due to PIN1’s role in regulating primordial germ cell cycle progression during embryonic development. We hypothesized that perturbations in the human PIN1 gene might play a role in folliculogenesis in humans. STUDY DESIGN: Sixty-eight women with idiopathic POF (defined as having amenorrhea for 1 year prior to age 40 in the absence of other known etiology/chromosomal abnormality and with confirmatory FSH >20 IU/L) were included in the study. Genomic DNA was extracted from peripheral blood samples. All 4 exons of PIN1 were sequenced and systematically compared to each other. RESULTS: We found only 2 synonymous variants in Exon 2 at amino acid positions 33 (NP_006212.1: p.Gln33=) and 74. The remainder of PIN1 was highly conserved. CONCLUSION: Our pilot study, the first interrogating PIN1 in POF, suggests that mutation in PIN1 will not be a common cause of POF in the North American population.
