Assessment of the pathogenicity of the p.K695R and p.A744S Mediterranean fever gene variants
نویسندگان
چکیده
Methods Pathogenicity is indicated by the degree of positive association between the variant in its heteroand monozygous forms, and an FMF phenotype. Subjects genotyped with p. K695R or p.A744S from 1500 referrals for FMF genetic testing between 2010-14 performed at the Sheba Medical Center, were clinically characterized using medical records or phone interview, by an expert blinded to the genotype. FMF diagnosis, and severity assessed by the Mor score were related to the genotype.
منابع مشابه
MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, pr...
متن کاملKCNE1 and KCNE2 variants in Patients with Long QT Syndrome
Introduction: Long QT syndrome (LQTS) is a type of ventricular arrhythmia characterized by prolonged QT intervals on electrocardiogram or delay in ventricular repolarization and it can lead to syncope, seizure and sudden cardiac death. Here, KCNE1 and KCNE2 variants are studied among Iranian affected families with this syndrome. Materials and Methods: Fifty patients referring to Rajaei Cardiov...
متن کاملGenetic Analysis of Southwestern Iranian Patients with Familial Mediterranean Fever
Background: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. Methods: To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common ME...
متن کاملR202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis
Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and sec...
متن کاملGenotype Pattern of Pediatric Familial Mediterranean Fever in Jordan: A Single Center Experience
Background Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Mediterranean ancestry, mostly Armenian, Turkish, Jewish and Arab populations. We aimed to describe genotype pattern of FMF in the Jordanian children and to compare it with other populations. Materials and Methods A retros...
متن کامل