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

Research output: Contribution to journalArticle

16 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)530-535
Number of pages6
JournalClinical Genetics
Volume63
Issue number6
DOIs
Publication statusPublished - Jun 1 2003
Externally publishedYes

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Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Jawaheer, D., Juo, S. H. H., Le Caignec, C., David, A., Petit, C., Gregersen, P., ... Ostrer, H. (2003). Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis. Clinical Genetics, 63(6), 530-535. https://doi.org/10.1034/j.1399-0004.2003.00082.x