title: Screening for mutations in the WNT-4 gene in patients with 46,XX true hermaphroditism.
abstract: We investigated if eight SRY-negative 46,XX true hermaphrodites presented mutations in WNT-4, in blood leukocytes and/or gonadal tissue, as the cause of their disorder. We designed the sequences of the reverse primer of exon 1 and the primers of exons 2-5. Direct sequencing of all five exons demonstrated no mutant alleles in any of the patients. The possibility of the existence of causative mutations in the untranslated regions of WNT-4, or within introns cannot be ruled out.
authors.affiliation: Research Unit in Developmental Biology, Hospital de Pediatría, Centro Medico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico, DF, Mexico.
authors.forename: Patricia
authors.initials: P
authors.lastname: Canto
authors.forename: Selene
authors.initials: S
authors.lastname: Razo
authors.forename: Daniela
authors.initials: D
authors.lastname: Söderlund
authors.forename: Raúl
authors.initials: R
authors.lastname: Calzada-León
authors.forename: María
authors.initials: M
authors.lastname: de la Luz Ruiz-Reyes
authors.forename: Guillermo
authors.initials: G
authors.lastname: Ramón
authors.forename: Gabriela
authors.initials: G
authors.lastname: Braun-Roth
authors.forename: Juan Pablo
authors.initials: JP
authors.lastname: Méndez
mesh_terms: D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000097:blood / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007962:Leukocytes / Q000737:chemistry; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051153:Wnt Proteins; D060528:Wnt4 Protein
chemical_list: D011518:Proto-Oncogene Proteins; C555581:WNT4 protein, human; D051153:Wnt Proteins; D060528:Wnt4 Protein