title: Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.
abstract: During mouse sex determination, SRY upregulates the core testis-specific enhancer of Sox9, TESCO. Mutations in human SRY are found in one third of cases with XY pure gonadal dysgenesis (XY GD; Swyer syndrome), while two thirds remain unexplained. Heterozygous SOX9 mutations can cause XY GD in association with the skeletal malformation syndrome campomelic dysplasia. We hypothesized that human TESCO mutations could cause isolated XY GD. Sixty-six XY GD cases with an intact SRY were analyzed for TESCO point mutations or deletions. No mutations were identified. We conclude that TESCO mutations are not a common cause of XY GD.
authors.affiliation: Institute of Human Genetics, University of Freiburg, Freiburg, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Georg
authors.forename: S
authors.initials: S
authors.lastname: Bagheri-Fam
authors.forename: K C
authors.initials: KC
authors.lastname: Knower
authors.forename: P
authors.initials: P
authors.lastname: Wieacker
authors.forename: Gerd
authors.initials: G
authors.lastname: Scherer
authors.forename: V R
authors.initials: VR
authors.lastname: Harley
mesh_terms: D000818:Animals; D003598:Cytoskeletal Proteins; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D060588:LIM Domain Proteins; D008297:Male; D051379:Mice; D009154:Mutation / Q000235:genetics*; D016601:RNA-Binding Proteins; D051876:Sex-Determining Region Y Protein / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; D018398:Homeodomain Proteins; D060588:LIM Domain Proteins; D016601:RNA-Binding Proteins; D051876:Sex-Determining Region Y Protein; C429688:TES protein, human; D025521:Tumor Suppressor Proteins