title: Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46,XY gonadal dysgenesis.
abstract: We tested a female patient with 46,XY karyotype and pure gonadal dysgenesis for the presence of the SRY gene and for mutations within the SRY conserved domain. A point mutation was identified at nucleotide position 209 with respect to the first ATG. The base substitution is a G-->A transition in the first nucleotide of codon 70 which changes a tryptophan (TGG) to a stop codon (TAG). Even though the father was not available for investigation we assumed that it is a de novo mutation, since it probably generates a nonfunctional truncated protein.
authors.affiliation: Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas (UNICAMP), SP, Brasil.
authors.forename: J G
authors.initials: JG
authors.lastname: Assumpção
authors.forename: A T
authors.initials: AT
authors.lastname: Guerra
authors.forename: M
authors.initials: M
authors.lastname: Palandi de Mello
mesh_terms: D000293:Adolescent; D018389:Codon, Nonsense / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000601:surgery; D006801:Humans; D017354:Point Mutation / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014364:Tryptophan / Q000235:genetics / Q000378:metabolism
chemical_list: D018389:Codon, Nonsense; D014364:Tryptophan; D004247:DNA