A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.
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.
Hu
Guofang
G
Department of Dermatology Genetics and Development, Columbia University, New York, NY 10032, USA.
Yildirim
Mehmet
M
Baysal
Vahide
V
Yerebakan
Ozlem
O
Yilmaz
Ertan
E
Inaloz
H Serhat
HS
Martinez-Mir
Amalia
A
Christiano
Angela M
AM
Celebi
Julide Tok
JT
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*
D000950:Antigens, Ly; D018389:Codon, Nonsense; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator