Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous

Jessica A Taylor; Davide Bondavalli; Mastura Monif; Lee Mei Yap; Ingrid Winship

doi:10.1111/ajd.12239

Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous

Australas J Dermatol. 2016 Feb;57(1):e11-3. doi: 10.1111/ajd.12239. Epub 2014 Dec 30.

Authors

Jessica A Taylor¹, Davide Bondavalli^{1

2}, Mastura Monif¹, Lee Mei Yap³, Ingrid Winship^{1

4}

Affiliations

¹ Genetic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
² Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy.
³ St Vincent's Hospital, Melbourne, Victoria, Australia.
⁴ Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Melbourne, Victoria, Australia.

PMID: 25557416
DOI: 10.1111/ajd.12239

Abstract

Mal de Meleda is a rare autosomal recessive genodermatosis caused by mutations in the ARS B (SLURP1) gene, with possible founder effects in the Mediterranean and Adriatic regions. We report an affected individual from Indonesia without known consanguinity in the family, suggesting that SLURP1 gene mutations are ubiquitous. Recognition of the phenotype can be confirmed by genetic testing, thus facilitating genetic counselling.

Keywords: ARS component B; Mal de Meleda; SLURP1; gene; genodermatosis; palmoplantar keratosis.

Publication types

Case Reports

MeSH terms

Adult
Antigens, Ly / genetics*
Female
Humans
Indonesia
Keratoderma, Palmoplantar / genetics*
Mutation
Pedigree
Urokinase-Type Plasminogen Activator / genetics*

Substances

Antigens, Ly
SLURP1 protein, human
Urokinase-Type Plasminogen Activator