Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda.
Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8qter, and in a recent study mutations in the ARS gene have been identified in families with this disorder. Here, we report two unrelated families with mal de Meleda, in which two different homozygous mutations in the ARS gene were identified. These findings support the notion that mutations in the ARS gene are pathogenic in mal de Meleda.
Ward
Kimberley Morine
KM
Department of Dermatology, Columbia University, New York, NY 10032, USA.
Yerebakan
Ozlem
O
Yilmaz
Ertan
E
Celebi
Jülide Tok
JT
D000328:Adult; D000950:Antigens, Ly / Q000235:genetics*; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009154:Mutation; D012008:Recurrence; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics*
D000950:Antigens, Ly; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator