Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations

• Published in: Journal of human genetics Vol. 55; no. 6; pp. 389 - 393
• Main Authors: Moradian, Mike M, Sarkisian, Tamara, Ajrapetyan, Hasmik, Avanesian, Nare
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.06.2010; Nature Publishing Group
• Subjects: 631/208/2489/144; 631/208/727; 631/208/737; Armenia; Biomedical and Life Sciences; Biomedicine; Cohort Studies; Cytoskeletal Proteins - genetics; Exons; Familial Mediterranean fever; Familial Mediterranean Fever - diagnosis; Familial Mediterranean Fever - genetics; Gene Expression; Gene Function; Gene Therapy; Genetic Carrier Screening; Genotype; Heterozygote; Human Genetics; Humans; Molecular Medicine; Mutation; original-article; Phenotype; Phenotypes; Population genetics; Pyrin; Pyrin protein; homozygous; symptoms; pathogenicity; Armenian; MEFV; FMF; heterozygous

Familial Mediterranean fever (FMF) is an autoinflammatory disorder generally caused by recessively inherited mutations in the MEFV gene. FMF is quite prevalent in Armenian population in which majority of patients have two mutated alleles, yet in 18% of symptomatic patients just one mutation has been...