title: FSH receptor gene variants are rarely associated with premature ovarian failure.
abstract: FSH receptor (FSHR) gene variants have been associated with premature ovarian failure (POF). Genomic DNA from New Zealand women with POF (n=80) and control women (n=80) was screened for variants in FSHR exons 7 and 10. FSHR exon 7 variants, including the c.566C>T Finnish founder mutation (p.Ala189Val), were not detected. Previously reported FSHR exon 10 polymorphisms were identified in both groups with similar allelic distributions. A novel heterozygous FSHR exon 10 variant c.1411A>T, p.Ile471Phe was observed in one woman with a family history of POF, but not her affected siblings. It is concluded that variants in exons 7 and 10 of FSHR are not frequently associated with the development of POF in the New Zealand population.
authors: Discipline of Oncology, University of Auckland, Auckland, New Zealand. katie.woad@nottingham.ac.uk
authors: Kathryn J
authors: KJ
authors: Woad
authors: Deborah
authors: D
authors: Prendergast
authors: Ingrid M
authors: IM
authors: Winship
authors: Andrew N
authors: AN
authors: Shelling
mesh_terms: D005091:Exons; D005260:Female; D014644:Genetic Variation; D006801:Humans; D009520:New Zealand; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D011962:Receptors, FSH / Q000235:genetics*
chemical_list: D011962:Receptors, FSH