title: Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women.
abstract: The WNT4 gene plays a crucial role in sexual differentiation and female genital tract development. This study screened WNT4 for mutation in 189 Chinese women with Müllerian duct abnormalities (10 Mayer-Rokitansky-Küster-Hauser syndrome, five Müllerian aplasia and 174 incomplete Müllerian fusion) and detected no perturbation that would indicate a major role for WNT4. Only one novel synonymous mutation (c.1091G>A) in exon 5 and one known single-nucleotide polymorphism (rs16826648) in exon 2 were found. The results suggest that WNT4 might not contribute to the aetiology of Müllerian duct abnormalities in Chinese women.
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China.
authors.forename: Xinyue
authors.initials: X
authors.lastname: Chang
authors.forename: Yingying
authors.initials: Y
authors.lastname: Qin
authors.forename: Chengyan
authors.initials: C
authors.lastname: Xu
authors.forename: Guangyu
authors.initials: G
authors.lastname: Li
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Zhao
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000208:ethnology* / Q000235:genetics*; D000015:Abnormalities, Multiple / Q000208:ethnology* / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D000013:Congenital Abnormalities; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007247:Infertility, Female / Q000208:ethnology / Q000235:genetics; D007668:Kidney / Q000002:abnormalities; D009095:Mullerian Ducts / Q000002:abnormalities*; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012189:Retrospective Studies; D019170:Somites / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities; D060528:Wnt4 Protein / Q000235:genetics*
chemical_list: C555581:WNT4 protein, human; D060528:Wnt4 Protein