Zhao Linshu, Vahlquist Anders, Virtanen Marie, Wennerstrand Lena, Lind Lisbet K, Lundström Anita, Hellström Pigg Maritta
Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Acta Derm Venereol. 2014 Nov;94(6):707-10. doi: 10.2340/00015555-1840.
Palmoplantar keratoderma of the Gamborg-Nielsen type (PPK-GN) is a rare autosomal recessive skin disorder described in patients from Sweden. Mal de Meleda (MDM) is also a rare autosomal recessive inherited PPK first reported in 5 families from the island of Meleda. The 2 conditions phenotypically overlap and are characterised by palmoplantar erythematous hyperkeratotic plaques. The genetic background giving rise to PPK-GN has hitherto been unknown, whereas MDM is known to be caused by mutations in the gene encoding secreted Ly-6/uPAR-related protein 1, SLURP-1. In the present study we scrutinised individuals affected by PPK-GN for mutations in the SLURP1 gene and identified 2 different mutations. Fourteen Swedish patients were homozygous for a previously described mutation, c.43T>C, while one individual was a compound heterozygote with one copy of a novel mutation, c.280T>A, in addition to one copy of the c.43T>C mutation. Hereby we confirm that PPK-GN is an allelic variant of MDM.
甘博尔 - 尼尔森型掌跖角化病（PPK - GN）是一种在瑞典患者中发现的罕见常染色体隐性遗传性皮肤病。梅莱达病（MDM）也是一种罕见的常染色体隐性遗传性掌跖角化病，最初在梅莱达岛的5个家族中被报道。这两种病症在表型上有重叠，其特征为掌跖部出现红斑性角化过度斑块。导致PPK - GN的遗传背景迄今尚不清楚，而MDM已知是由编码分泌型Ly - 6/uPAR相关蛋白1（SLURP - 1）的基因突变引起的。在本研究中，我们对受PPK - GN影响的个体进行了SLURP1基因突变筛查，并鉴定出2种不同的突变。14名瑞典患者对先前描述的突变c.43T>C呈纯合状态，而一名个体除了一份c.43T>C突变拷贝外，还是一种复合杂合子，带有一份新突变c.280T>A。由此我们证实PPK - GN是MDM的一种等位基因变体。
