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Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous |
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| Authors: | Jessica A Taylor Davide Bondavalli Mastura Monif Lee Mei Yap Ingrid Winship |
| Affiliation: | 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 |
| 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 gene genodermatosis Mal de Meleda palmoplantar keratosis SLURP1 |