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Mal de M eleda in I ndonesia: Mutations in the SLURP 1 gene appear to be ubiquitous

2014; Wiley; Volume: 57; Issue: 1 Linguagem: Inglês

10.1111/ajd.12239

1440-0960

Jessica Taylor, Davide Bondavalli, Mastura Monif, Lee Mei Yap, Ingrid Winship,

Advances in Cucurbitaceae Research

Abstract Mal de M eleda is a rare autosomal recessive genodermatosis caused by mutations in the ARS B ( SLURP 1 ) gene, with possible founder effects in the M editerranean and A driatic regions. We report an affected individual from I ndonesia without known consanguinity in the family, suggesting that SLURP 1 gene mutations are ubiquitous. Recognition of the phenotype can be confirmed by genetic testing, thus facilitating genetic counselling.