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 | |
| Publication status | Published - 1 Feb 2016 |
| Externally published | Yes |
Keywords
- ARS component B
- gene
- genodermatosis
- Mal de Meleda
- palmoplantar keratosis
- SLURP1
Cite this
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Mal de Meleda in Indonesia : Mutations in the SLURP1 gene appear to be ubiquitous. / Taylor, Jessica A.; Bondavalli, Davide; Monif, Mastura; Yap, Lee Mei; Winship, Ingrid.
In: Australasian Journal of Dermatology, Vol. 57, No. 1, 01.02.2016, p. e11-e13.Research output: Contribution to journal › Article › Other › peer-review
TY - JOUR
T1 - Mal de Meleda in Indonesia
T2 - Mutations in the SLURP1 gene appear to be ubiquitous
AU - Taylor, Jessica A.
AU - Bondavalli, Davide
AU - Monif, Mastura
AU - Yap, Lee Mei
AU - Winship, Ingrid
PY - 2016/2/1
Y1 - 2016/2/1
N2 - 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.
AB - 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.
KW - ARS component B
KW - gene
KW - genodermatosis
KW - Mal de Meleda
KW - palmoplantar keratosis
KW - SLURP1
UR - http://www.scopus.com/inward/record.url?scp=84958122083&partnerID=8YFLogxK
U2 - 10.1111/ajd.12239
DO - 10.1111/ajd.12239
M3 - Article
VL - 57
SP - e11-e13
JO - Australasian Journal of Dermatology
JF - Australasian Journal of Dermatology
SN - 0004-8380
IS - 1
ER -