Original Article

Journal of Investigative Dermatology (1995) 105, 87–91; doi:10.1111/1523-1747.ep12313359

The Gene for Bazex-Dupré-Christol Syndrome Maps to Chromosome Xq

Pierre Vabres1, Didier Lacombe2,3, Linda G Rabinowitz4, Gérard Aubert5, Carol E Anderson6, Alain Taieb2,3, Jean-Louis Bonafe4 and Marie-Claude Hors-Cayla1

  1. 1Research Unit INSERM U 393, Hôpital necker Enfants-Malades, Paris, France
  2. 2Department of Medical Genetics, Hôpital Pellegrin-Enfants, Bordeaux, France
  3. 3Department of Pediatric Dermatology, Hôpital Pellegrin-Enfants, Bordeaux, France
  4. 4Departments of Pediatrics and Dermatology, Medical College of Wisconsin, MACC Fund Research Center, Milwaukee, Wisconsin, U.S.A.
  5. 5Department of Dermatology and Dermatological Research Laboratory, Rangueil Hospital, Toulouse, France
  6. 6Division of Medical Genetics, Jefferson Medical College, Philadelphia, Pennsylvania, U.S.A.

Received 9 December 1994; Revised 21 February 1995; Accepted 23 March 1995.

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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 DXSl192 locus). This represents a first step towards the identification of a gene involved in hair follicle development and skin tumor formation.

Keywords:

basal cell carcinoma, follicular atrophoderma, Hypotrichosis, linkage analysis

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