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Mal de M eleda in I ndonesia: Mutations in the SLURP 1 gene appear to be ubiquitous
Author(s) -
Taylor Jessica A,
Bondavalli Davide,
Monif Mastura,
Yap Lee Mei,
Winship Ingrid
Publication year - 2016
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/ajd.12239
Subject(s) - genodermatosis , gene , phenotype , genetics , consanguinity , medicine , mutation , biology
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.