title: Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis.
abstract: 46,XY gonadal dysgenesis was transmitted as an autosomal-dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with normal female genitalia or sexual ambiguity, to mild hypospadias in otherwise normal males. The phenotypic features of this trait appeared to be confined to the genitourinary system. Multipoint parametric analysis using markers D5S664, D5S633, and D5D2102 yielded an LOD score of 4.47, assuming sex-limited, autosomal-dominant inheritance with a penetrance of 0.6. Because mutation in testis-determining genes leads to gonadal dysgenesis in 46,XY individuals, we postulate that the gene mapped by this study normally plays a role in gonadal differentiation.
authors.affiliation: Division of Biology and Human Genetics, North Shore University Hospital, Manhasset, New York, USA.
authors.forename: D
authors.initials: D
authors.lastname: Jawaheer
authors.forename: S-H H
authors.initials: SH
authors.lastname: Juo
authors.forename: C
authors.initials: C
authors.lastname: Le Caignec
authors.forename: A
authors.initials: A
authors.lastname: David
authors.forename: C
authors.initials: C
authors.lastname: Petit
authors.forename: P
authors.initials: P
authors.lastname: Gregersen
authors.forename: S
authors.initials: S
authors.lastname: Dowbak
authors.forename: A
authors.initials: A
authors.lastname: Damle
authors.forename: K
authors.initials: K
authors.lastname: McElreavey
authors.forename: H
authors.initials: H
authors.lastname: Ostrer
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree