A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever

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• 作者：Hasan Dogan (1)
  Fatih Akdemir (1)
  Sener Tasdemir (2)
  Omer Atis (1)
  Eda Diyarbakir (1)
  Rahsan Yildirim (3)
  Mucahit Emet (4)
  Mevlit Ikbal (5)
  
  1. Department of Medical Biology ; Medicine Faculty ; Ataturk University ; 25240 ; Erzurum ; Turkey
  2. Department of Medical Genetics ; Medicine Faculty ; Ataturk University ; 25240 ; Erzurum ; Turkey
  3. Department of Internal Medicine ; Medicine Faculty ; Ataturk University ; 25240 ; Erzurum ; Turkey
  4. Department of Emergency Medicine ; Medicine Faculty ; Ataturk University ; 25240 ; Erzurum ; Turkey
  5. Department of Medical Genetics ; Medicine Faculty ; Karadeniz Technical University ; 61080 ; Trabzon ; Turkey
  
• 关键词：DNA sequencing ; FMF ; MEFV ; Novel mutation ; Exon 2 ; Exon 10
• 刊名：BMC Medical Genetics
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：15
• 期：1
• 全文大小：573 KB
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  23. The pre-publication history for this paper can be accessed here: http://www.biomedcentral.com/1471-2350/15/74/prepub
  
• 刊物主题：Human Genetics; Genetics and Population Dynamics;
• 出版者：BioMed Central
• ISSN：1471-2350

文摘

Background 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. Methods 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. Results 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. Conclusions 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.