Dogan Hasan, Akdemir Fatih, Tasdemir Sener, Atis Omer, Diyarbakir Eda, Yildirim Rahsan, Emet Mucahit, Ikbal Mevlit
Department of Medical Biology, Medicine Faculty, Ataturk University, 25240 Erzurum, Turkey.
BMC Med Genet. 2014 Jul 1;15:74. doi: 10.1186/1471-2350-15-74.
Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 296 mutations have been reported to date.
Two two-generation Turkish families with a total of four members diagnosed with FMF clinically were screened with DNA sequencing performed on exon 2 and exon 10 of the MEFV genes. Then, complete exome sequencing analysis of MEFV gene was done for four patients in whom novel mutation was detected.
A novel single base Guanine (G) insertion mutation in the coding region of MEFV gene, named c.2330dupG (p.Gln778Serfs*4 or Q778SfsX4) resulting in a mutated Pyrin/Marenostrin protein was identified.
This is the first report of a new mutation in exon 10 of the MEFV gene in two Turkish families. This novel pattern of insertion mutation may provide important information for further studies on FMF pathogenesis.
家族性地中海热（FMF）以反复发热和浆膜炎症为特征，是一种由地中海热（MEFV）基因突变引起的常染色体隐性疾病。迄今为止，已报道约296种突变。
对两个临床诊断为FMF的两代土耳其家庭（共四名成员）进行MEFV基因第2外显子和第10外显子的DNA测序筛查。然后，对检测到新突变的四名患者进行MEFV基因的全外显子测序分析。
在MEFV基因编码区鉴定出一种新的单碱基鸟嘌呤（G）插入突变，命名为c.2330dupG（p.Gln778Serfs*4或Q778SfsX4），导致Pyrin/Marenostrin蛋白发生突变。
这是关于两个土耳其家庭中MEFV基因第10外显子新突变的首次报道。这种新的插入突变模式可能为进一步研究FMF发病机制提供重要信息。
