Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2014 Jul 1:15:74.
doi: 10.1186/1471-2350-15-74.

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

Hasan Dogan  1 , Fatih Akdemir, Sener Tasdemir, Omer Atis, Eda Diyarbakir, Rahsan Yildirim, Mucahit Emet, Mevlit Ikbal
Affiliations

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

Hasan Dogan et al. BMC Med Genet. .

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Electrophoregrams of the new heterozygous insertion at 2331st nucleotide of MEFV. The insertion resulted frame shift in codon 777. (a) Forward Electrophoregram, (b) Reverse Electrophoregram.
Figure 2
Figure 2
Pedigree diagrams of the probands families.
Figure 3
Figure 3
3D view of pyrin protein [18].
See this image and copyright information in PMC

References

    1. Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, Yalçinkaya F, Ozen S, Majeed H, Ozdogan H, Kastner D, Booth D, Ben-Chetrit E, Pugnère D, Michelon C, Séguret F, Gershoni-Baruch R. International Study Group for Phenotype-Genotype Correlation in Familial Mediterranean Fever. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum. 2007;15:1706–1712. - PubMed
    1. Aldea A, Campistol JM, Arostegui JI, Rius J, Maso M, Vives J, Yagüe J. A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? Am J Med Genet A. 2004;15:67–73. - PubMed
    1. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;15:797–807. - PubMed
    1. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;15:25–31. - PubMed
    1. Dundar M, Emirogullari EF, Kiraz A, Taheri S, Baskol M. Common Familial Mediterranean Fever gene mutations in a Turkish cohort. Mol Biol Rep. 2011;15:5065–5069. - PubMed

LinkOut - more resources