title: A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.
abstract: Mal de Meleda is a rare form of palmoplantar keratoderma, and recently mutations in the ARS (component) B gene have been identified in families with this disease. We identified a recurrent nonsense mutation, R96X, in four families of Turkish descent. In this report, we demonstrate that these families share a common ancestral haplotype at the mal de Meleda locus, suggesting a founder effect.
authors.affiliation: Department of Dermatology Genetics and Development, Columbia University, New York, NY 10032, USA.
authors.forename: Guofang
authors.initials: G
authors.lastname: Hu
authors.forename: Mehmet
authors.initials: M
authors.lastname: Yildirim
authors.forename: Vahide
authors.initials: V
authors.lastname: Baysal
authors.forename: Ozlem
authors.initials: O
authors.lastname: Yerebakan
authors.forename: Ertan
authors.initials: E
authors.lastname: Yilmaz
authors.forename: H Serhat
authors.initials: HS
authors.lastname: Inaloz
authors.forename: Amalia
authors.initials: A
authors.lastname: Martinez-Mir
authors.forename: Angela M
authors.initials: AM
authors.lastname: Christiano
authors.forename: Julide Tok
authors.initials: JT
authors.lastname: Celebi
mesh_terms: D000950:Antigens, Ly / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D018389:Codon, Nonsense; D005260:Female; D018703:Founder Effect; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D012008:Recurrence; D014421:Turkey; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics*
chemical_list: D000950:Antigens, Ly; D018389:Codon, Nonsense; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator