Charfeddine Cherine, Mokni Mourad, Kassar Selma, Zribi Hela, Bouchlaka Chiraz, Boubaker Samir, Rebai Ahmed, Ben Osman Amel, Abdelhak Sonia
"Molecular Investigation of Genetic Orphan Diseases" Research Unit (MIGOD), Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, 1002, Tunis, Belvédère, Tunisia.
Service de Dermatologie, Hôpital de la Rabta de Tunis, Tunis, Tunisia.
J Hum Genet. 2006;51(10):841-845. doi: 10.1007/s10038-006-0002-8. Epub 2006 Jul 25.
Transgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and feet. The disease is distributed worldwide and includes the Mediterranean population. The gene responsible for MDM, ARS (component B) mapped on chromosome 8qter, encodes for the SLURP-1 protein (Ly-6/uPAR related protein-1). A variety of mutations within the ARS gene have been shown to underlie MDM in different populations. Genetic heterogeneity of MDM is suspected. We have recently shown that three different homozygous mutations (82delT, C77R, C99Y) were responsible for MDM in 17 patients from Northern Tunisia belonging to eight unrelated consanguineous families. We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene.
进行性掌跖角化病（PPK）是梅勒达病（MDM，MIM 24300）的表型特征。其特点是红斑和角化过度，可延伸至手足背面。该病在全球范围内均有分布，包括地中海人群。导致MDM的基因ARS（组分B）定位于8号染色体长臂末端，编码SLURP-1蛋白（Ly-6/uPAR相关蛋白-1）。已表明ARS基因内的多种突变是不同人群中MDM的基础。怀疑MDM存在遗传异质性。我们最近发现，来自突尼斯北部八个无亲缘关系的近亲家庭的17名患者中，三种不同的纯合突变（82delT、C77R、C99Y）导致了MDM。我们在此报告一个突尼斯家庭，该家庭有三个兄弟姐妹患有隐性进行性PPK，与MDM表型极为相似，但排除了与ARS基因的连锁关系。
