Timmann Christian, Mersinli Osman, Kuhne Kathrin, Sievertsen Juergen, Griebel Martin A, Dieckerhoff Jost, Horstmann Rolf D
Bernhard Nocht Institute for Tropical Medicine, Bernhard-Nocht-Strasse 74, 20359 Hamburg, Germany.
Blood Cells Mol Dis. 2003 Nov-Dec;31(3):320-3. doi: 10.1016/s1079-9796(03)00132-3.
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever, serositis, and a risk for AA amyloidosis. FMF is caused by mutations in the Mediterranean fever gene (MEFV), which is expressed in blood cells of the myelomonocytic differentiation pathway. We identified a novel mutation S1791 in exon 2 of MEFV in two members of a family of Turkish origin. In both cases, S1791 was in compound heterozygosity with MEFV mutation M694V, and the characteristic clinical syndrome of FMF including amyloidosis was found. The location of S1791 in exon 2 is of interest because (1) amyloidosis in FMF has previously been found to be strongly associated with compound exon 10 mutations and (2) it supports the notion that the mechanism causing FMF is connected to the cytoplasmic rather than nuclear function of the molecule.
家族性地中海热（FMF）是一种常染色体隐性疾病，其特征为发热、浆膜炎反复发作以及患AA型淀粉样变性的风险。FMF由地中海热基因（MEFV）突变引起，该基因在骨髓单核细胞分化途径的血细胞中表达。我们在一个土耳其裔家族的两名成员中，于MEFV外显子2中鉴定出一种新型突变S1791。在这两个病例中，S1791与MEFV突变M694V呈复合杂合状态，并且发现了包括淀粉样变性在内的FMF特征性临床综合征。外显子2中S1791的位置值得关注，原因如下：（1）此前发现FMF中的淀粉样变性与外显子10复合突变密切相关；（2）它支持了导致FMF的机制与该分子的细胞质而非核功能相关的观点。
