Screening for mutations in the WNT-4 gene in patients with 46,XX true hermaphroditism.
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.
Canto
Patricia
P
Research Unit in Developmental Biology, Hospital de Pediatría, Centro Medico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico, DF, Mexico.
Razo
Selene
S
Söderlund
Daniela
D
Calzada-León
Raúl
R
de la Luz Ruiz-Reyes
María
M
Ramón
Guillermo
G
Braun-Roth
Gabriela
G
Méndez
Juan Pablo
JP
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
D011518:Proto-Oncogene Proteins; C555581:WNT4 protein, human; D051153:Wnt Proteins; D060528:Wnt4 Protein