First Report of Predominant MEFV Mutations in a Persian Children Population with Familial Mediterranean Fever: R202Q, M694V/I
نویسندگان
چکیده
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 کاملCommon MEFV Mutations in Palestinian Patients with Familial Mediterranean Fever
Familial Mediterranean fever (FMF) is an autosomal recessive inflammatory disorder caused by mutations in the MEFV gene that encodes the pyrin protein. The disease is relatively common among people originating from the Mediterranean areas. The aim of this study was to determine the common MEFV gene mutations in 270 Palestinian patients diagnosed with FMF. The patients were screened for four com...
متن کاملFamilial Mediterranean fever without MEFV mutations: a case–control study
BACKGROUND Although familial Mediterranean fever (FMF) was originally defined as an autosomal recessive disorder, approximately 10-20% of FMF patients do not carry any FMF gene (MEFV) mutations. Fine phenotype characterization may facilitate the elucidation of the genetic background of the so called "FMF without MEFV mutations". In this study we clinically and demographically characterize this ...
متن کاملMEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study
BACKGROUND Familial Mediterranean fever (FMF) is the most common autoinflammatory disorder in the world. It is characterized by recurrent febrile inflammatory attacks of serosal and synovial membranes. MEFV gene mutations are responsible for the disease and its protein product, pyrin or marenostrin, plays an essential role in the regulation of the inflammatory reactions. Although the disease ma...
متن کاملBone Mineral Density in Egyptian Children with Familial Mediterranean Fever
Background: Familial Mediterranean fever (FMF) has episodic or subclinical inflammation that may lead to a decrease in bone mineral density (BMD). The objective of this study was to assess BMD in Egyptian children with FMF on genetic basis.Methods: A cross sectional study included 45 FMF patients and 25 control children of both sexes in the age range between 3-16 years old. The patients were re...
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ژورنال
عنوان ژورنال: Hereditary Genetics
سال: 2018
ISSN: 2161-1041
DOI: 10.4172/2161-1041.1000190