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

[familial mediterranean fever]

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 .2330 dupG (p .Gln 778 Serfs *4 or Q 778 SfsX 4 ) 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 .