title: A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.
abstract: The Y chromosome gene SRY plays an important role in normal male sexual development and is thought to be the testis-determining factor. We describe a familial nonsense mutation in SRY, shared by two XY sisters with complete gonadal dysgenesis and, in a mosaic manner, by their father. This mutation, consisting of a C to T transition in position 1 of codon 97 of SRY, results in a truncated peptide with an incomplete DNA-binding domain. The mutation is also present in the father of the two cases, but a portion of wild-type SRY also remains. Our data suggest that the father suffered a postzygotic mutation early in development, but that he retained a remnant of functional SRY protein that accounts for his normal development.
authors.affiliation: Department of Pediatric Endocrinology, Hospital de Cruces, Basque Country, Spain.
authors.forename: J R
authors.initials: JR
authors.lastname: Bilbao
authors.forename: L
authors.initials: L
authors.lastname: Loridan
authors.forename: L
authors.initials: L
authors.lastname: Castaño
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction