Marrakchi Slaheddine, Audebert Stéphanie, Bouadjar Bakar, Has Christina, Lefèvre Caroline, Munro Colin, Cure Susan, Jobard Florence, Morlot Susanne, Hohl Daniel, Prud'homme Jean-François, Zahaf Abdelmadjid, Turki Hamida, Fischer Judith
CHU Heidi Chaker, Department of Dermatology, Sfax, Tunisia.
J Invest Dermatol. 2003 Mar;120(3):351-5. doi: 10.1046/j.1523-1747.2003.12062.x.
Mal de Meleda is a recessive, transgressive palmoplantar keratoderma for which we previously identified mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1). In this report we describe two new mutations: (i) a founder mutation, which changes a conserved cysteine residue to tyrosine (C99Y) in a large inbred Tunisian pedigree, and (ii) a signal sequence mutation (W15R), which was homozygous in a German family and heterozygous in a Scottish patient. Four ancestral haplotypes were observed in 69 patients from countries around the Mediterranean basin, and an additional haplotype was found in the German and Scottish patients.
梅勒达病是一种隐性、进行性掌跖角化病，我们之前已在编码分泌型淋巴细胞抗原6/尿激酶型纤溶酶原激活物受体相关蛋白1（SLURP-1）的基因中鉴定出突变。在本报告中，我们描述了两个新突变：（i）一个奠基者突变，在一个庞大的突尼斯近亲家系中，一个保守的半胱氨酸残基变为酪氨酸（C99Y）；（ii）一个信号序列突变（W15R），在一个德国家庭中为纯合子，在一名苏格兰患者中为杂合子。在地中海盆地周边国家的69名患者中观察到四种祖先单倍型，在德国和苏格兰患者中发现了另外一种单倍型。
