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 .

Diseases
Validation

Diseases presenting "fever" symptom

22q11.2 deletion syndrome

acute rheumatic fever

alexander disease

allergic bronchopulmonary aspergillosis

canavan disease

carcinoma of the gallbladder

child syndrome

congenital toxoplasmosis

cushing syndrome

cystinuria

dracunculiasis

erdheim-chester disease

esophageal adenocarcinoma

esophageal carcinoma

familial mediterranean fever

focal myositis

hodgkin lymphoma, classical

lamellar ichthyosis

legionellosis

locked-in syndrome

malignant atrophic papulosis

neonatal adrenoleukodystrophy

neuralgic amyotrophy

oculocutaneous albinism

papillon-lefèvre syndrome

pyomyositis

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

typhoid

waldenström macroglobulinemia

wolf-hirschhorn syndrome

This symptom has already been validated