title: The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq.
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.
authors.affiliation: Research Unit INSERM U 393, Hôpital Necker Enfants-Malades, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Vabres
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: L G
authors.initials: LG
authors.lastname: Rabinowitz
authors.forename: G
authors.initials: G
authors.lastname: Aubert
authors.forename: C E
authors.initials: CE
authors.lastname: Anderson
authors.forename: A
authors.initials: A
authors.lastname: Taieb
authors.forename: J L
authors.initials: JL
authors.lastname: Bonafé
authors.forename: M C
authors.initials: MC
authors.lastname: Hors-Cayla
mesh_terms: D002280:Basal Cell Carcinoma / Q000235:genetics*; D002874:Chromosome Mapping; D004260:DNA Repair; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008297:Male; D012878:Skin Neoplasms / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome