title: A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.
abstract: Mutations in the sex-determining region of the Y chromosome (the SRY gene) have been reported in low frequency in patients with 46,XY gonadal dysgenesis. We investigated 21 Brazilian 46,XY sex-reversed patients, who presented either complete or partial gonadal dysgenesis or embryonic testicular regression syndrome. Using Southern blotting, polymerase chain reaction, denaturing gradient gel electrophoresis and direct sequencing, we analyzed deletions and point mutations in the SRY gene. We found a missense mutation at codon 18 upstream of the 5' border of the HMG box of the SRY gene in one patient with partial gonadal dysgenesis. This variant sequence was also found in DNA obtained from blood and sperm cells of his father and in blood cells of his normal brother. The S18N mutation was not found in 50 normal males, ruling out the possibility of a common polymorphism. We identified a novel familial missense mutation (S18N) in the 5' non-HMG box of the SRY gene in 1 of 21 patients with 46,XY sex reversal.
authors.affiliation: Laboratório de Pesquisa da Clínica Médica I, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil.
authors.forename: S
authors.initials: S
authors.lastname: Domenice
authors.forename: M
authors.initials: M
authors.lastname: Yumie Nishi
authors.forename: A E
authors.initials: AE
authors.lastname: Correia Billerbeck
authors.forename: A C
authors.initials: AC
authors.lastname: Latronico
authors.forename: M
authors.initials: M
authors.lastname: Aparecida Medeiros
authors.forename: A J
authors.initials: AJ
authors.lastname: Russell
authors.forename: K
authors.initials: K
authors.lastname: Vass
authors.forename: F
authors.initials: F
authors.lastname: Marino Carvalho
authors.forename: E M
authors.initials: EM
authors.lastname: Costa Frade
authors.forename: I J
authors.initials: IJ
authors.lastname: Prado Arnhold
authors.forename: B
authors.initials: B
authors.lastname: Bilharinho Mendonca
mesh_terms: D000293:Adolescent; D000328:Adult; D001216:Asparagine / Q000235:genetics; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009687:Nuclear Proteins; D017354:Point Mutation; D012689:Sequence Homology, Nucleic Acid; D012694:Serine / Q000235:genetics; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D012694:Serine; D001216:Asparagine