title: A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.
abstract: 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.
authors: Department of Medical Biology, Medicine Faculty, Ataturk University, 25240 Erzurum, Turkey. dthdogan@gmail.com.
authors: Hasan
authors: H
authors: Dogan
authors: Fatih
authors: F
authors: Akdemir
authors: Sener
authors: S
authors: Tasdemir
authors: Omer
authors: O
authors: Atis
authors: Eda
authors: E
authors: Diyarbakir
authors: Rahsan
authors: R
authors: Yildirim
authors: Mucahit
authors: M
authors: Emet
authors: Mevlit
authors: M
authors: Ikbal
mesh_terms: D000293:Adolescent; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D006147:Guanine / Q000378:metabolism*; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D010375:Pedigree; D000071198:Pyrin; D017422:Sequence Analysis, DNA; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D006147:Guanine