title: Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome.
abstract: The aim of this study is to determine if Müllerian agenesis has a genetic basis linked to the WNT genes. Genomic DNA analyses for mutations in the coding sequences of four members of this family in a series of 11 women with Mayer-Rokitansky-Kuster-Hauser syndrome found four variants in the coding sequence of these genes, but causal mutations were not observed. This supports the hypothesis that mutations in the coding sequence of WNT4, WNT5A, WNT7A, and WNT9B are not responsible for the Mayer-Rokitansky-Kuster-Hauser syndrome.
authors.affiliation: Human Developmental Genetics, Institut Pasteur, Paris, France.
authors.forename: Celia
authors.initials: C
authors.lastname: Ravel
authors.forename: Diana
authors.initials: D
authors.lastname: Lorenço
authors.forename: Lionel
authors.initials: L
authors.lastname: Dessolle
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Mandelbaum
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
authors.forename: Emile
authors.initials: E
authors.lastname: Darai
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Siffroi
mesh_terms: D000568:Amenorrhea / Q000235:genetics*; D004252:DNA Mutational Analysis; D005187:Fallopian Tubes / Q000002:abnormalities*; D005260:Female; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities*; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*; D051153:Wnt Proteins / Q000235:genetics*; D000071818:Wnt-5a Protein; D060528:Wnt4 Protein
chemical_list: D011518:Proto-Oncogene Proteins; C555581:WNT4 protein, human; C085389:WNT5A protein, human; C092778:WNT7A protein, human; C449090:WNT9B protein, human; D051153:Wnt Proteins; D000071818:Wnt-5a Protein; D060528:Wnt4 Protein