Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis

D. Jawaheer, S. H.H. Juo, C. Le Caignec, A. David, C. Petit, P. Gregersen, S. Dowbak, A. Damle, K. McElreavey, Harry Ostrer*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)530-535
Number of pages6
JournalClinical genetics
Issue number6
StatePublished - Jun 1 2003


  • 46.XY gonadal dysgenesis
  • Genetic mapping
  • Linkage analysis
  • Male sex determination

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


Dive into the research topics of 'Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis'. Together they form a unique fingerprint.

Cite this