The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq

J Invest Dermatol. 1995 Jul;105(1):87-91. doi: 10.1111/1523-1747.ep12313359.

Abstract

Bazex-Dupré-Christol syndrome is an inherited condition with skin cancer predisposition characterized by follicular atrophoderma, hypotrichosis, and early onset of multiple basal cell carcinomas. Previous reports suggested an X-linked mode of inheritance. We therefore performed linkage analysis with microsatellite markers of the X chromosome in three families. We obtained evidence for X-linkage and regional assignment to Xq24-q27 of this syndrome (maximal lod score = 5.26 with a recombination fraction of 0% at the DXS1192 locus). This represents a first step towards the identification of a gene involved in hair follicle development and skin tumor formation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma, Basal Cell / genetics*
  • Chromosome Mapping*
  • DNA Repair
  • Female
  • Genetic Linkage*
  • Humans
  • Hypotrichosis / genetics*
  • Male
  • Skin Neoplasms / genetics*
  • Syndrome
  • X Chromosome*