A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever
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
BMC Medical Genetics 2014, 15:74 doi:10.1186/1471-2350-15-74Published: 1 July 2014
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.