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

BMC Med Genet. 2014 Jul 1:15:74. doi: 10.1186/1471-2350-15-74.

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.

MeSH terms

  • Adolescent
  • Child
  • Cytoskeletal Proteins / genetics*
  • Cytoskeletal Proteins / metabolism
  • Exons
  • Familial Mediterranean Fever / genetics*
  • Female
  • Guanine / metabolism*
  • Humans
  • Male
  • Mutagenesis, Insertional*
  • Pedigree
  • Pyrin
  • Sequence Analysis, DNA
  • Turkey

Substances

  • Cytoskeletal Proteins
  • MEFV protein, human
  • Pyrin
  • Guanine