October 18th, 2018

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Mutation Analysis of the PIN1 Gene in 68 Predominantly Caucasian Patients with Premature Ovarian Failure
Authors:  Elliott G. Richards, M.D., Qing Liu, Ph.D., William Gibbons, M.D., Joe Leigh Simpson, M.D., and Ertug Kovanci, M.D.
  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.
Keywords:  DNA mutational analysis, infertility, Pin1 peptidylprolyl isomerase, PIN1, premature ovarian failure, primary ovarian insufficiency
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