title: Mutation analysis of the WNT-4 gene in patients with polycystic ovary syndrome.
abstract: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in women of childbearing age and is characterized by chronic anovulation with either oligomenorrhea or amenorrhea and hyperandrogenism. The etiology of this entity remains unknown. It has been suggested that genomic variants in genes related to the regulation of androgen biosynthesis and function could be involved in genetic predisposition to PCOS. WNT-4 is a member of the WNT family of secreted molecules. Studies on female Wnt-4 knockout mice have suggested that this gene suppresses gonadal androgen synthesis in normal females. We investigated if 25 women with PCOS presented mutations in WNT-4 as the cause of their disorder. Direct sequencing of all five exons demonstrated no mutant alleles in any patient. This study demonstrates that, at least in the population studied, mutations of the open reading frame of WNT-4 gene or its intron/exon junctions are not the cause of PCOS. However, the present data do not rule out the possible existence of causative mutations in the WNT-4 gene promoter region.
authors.affiliation: Unidad de Investigación Médica en Biología del Desarrollo, Centro Médico Nacional Siglo XXI, Coordinación de Investigación en Salud, Instituto Mexicano del Seguro Social, México, DF, México.
authors.forename: Patricia
authors.initials: P
authors.lastname: Canto
authors.forename: Daniela
authors.initials: D
authors.lastname: Söderlund
authors.forename: Sebastián
authors.initials: S
authors.lastname: Carranza-Lira
authors.forename: Juan Pablo
authors.initials: JP
authors.lastname: Méndez
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics; D011085:Polycystic Ovary Syndrome / Q000235:genetics* / Q000473:pathology; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051153:Wnt Proteins / Q000235:genetics*; D060528:Wnt4 Protein
chemical_list: D011518:Proto-Oncogene Proteins; C555581:WNT4 protein, human; D051153:Wnt Proteins; D060528:Wnt4 Protein; C555582:Wnt4 protein, mouse