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

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

Research output: Contribution to journal › Article › Other › peer-review

4 Citations (Scopus)

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.

Original language	English
Pages (from-to)	e11-e13
Number of pages	3
Journal	Australasian Journal of Dermatology
Volume	57
Issue number	1
DOIs	https://doi.org/10.1111/ajd.12239
Publication status	Published - 1 Feb 2016
Externally published	Yes

Keywords

ARS component B
gene
genodermatosis
Mal de Meleda
palmoplantar keratosis
SLURP1

Access to Document

10.1111/ajd.12239

Link to publication in Scopus

Cite this

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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.",

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