title: Analysis of WNT9B mutations in Chinese women with Mayer-Rokitansky-Küster-Hauser syndrome.
abstract: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital female genital anomaly, which is caused by aplasia of the caudalportion of the Müllerian duct. The WNT9B gene encodes a secretory glycoprotein essential for the caudal extension of the Müllerian duct during embryonic development in mice. Coding regions and exon/intron boundaries of the WNT9B gene were amplified and sequenced in 42 Chinese women with MRKH syndrome and 42 controls. Two novel heterozygous mutationswere identified,which were absent in controls. Onewas amissensemutation in exon 1, and the other was located in the 30-untranslated region. Both variants were detected in one out of 42 patients. The two novel mutations may be pathogenic variants in MRKH patients and warrant further functional study.
authors.affiliation: Department of Gynecology and Obstetrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, PR China.
authors.forename: Man
authors.initials: M
authors.lastname: Wang
authors.affiliation: Department of Gynecology and Obstetrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, PR China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Gynecology and Obstetrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, PR China.
authors.forename: Wenqing
authors.initials: W
authors.lastname: Ma
authors.affiliation: Department of Gynecology and Obstetrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, PR China.
authors.forename: Haixia
authors.initials: H
authors.lastname: Li
authors.affiliation: Department of Gynecology and Obstetrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, PR China.
authors.forename: Fuxian
authors.initials: F
authors.lastname: He
authors.affiliation: Department of Gynecology and Obstetrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, PR China.
authors.forename: Demin
authors.initials: D
authors.lastname: Pu
authors.affiliation: Department of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, PR China. Electronic address: sutiefen@hotmail.com.
authors.forename: Tiefen
authors.initials: T
authors.lastname: Su
authors.affiliation: Department of Gynecology and Obstetrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, PR China. Electronic address: sxwang2012@hotmail.com.
authors.forename: Shixuan
authors.initials: S
authors.lastname: Wang
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D000013:Congenital Abnormalities / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009095:Mullerian Ducts / Q000002:abnormalities*; D020125:Mutation, Missense / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D051153:Wnt Proteins / Q000235:genetics*
chemical_list: D017931:DNA Primers; C449090:WNT9B protein, human; D051153:Wnt Proteins
keywords: Mayer–Rokitansky–Küster–Hauser syndrome; Müllerian duct; Single-nucleotide polymorphism; WNT9B; Wolffian duct; mutation