P01-008 – FMF genotype-phenotype correlations in Germany
نویسندگان
چکیده
Results Among the 243 patients, we detected a total of 433 pyrin mutations and 22 different sequence variants, including one new mutation (p.Gly488Asp). The four most frequent alterations were p.Met694Val (55%, n=238), p.Met680lle (12%, n=52), p.Val726Ala (10%, n=44) and p.Glu148Gln (8%, n=34). Ethnic origin could be determined in 224 cases; the prevailing ancestry was Turkish (83%, n=185), 8% (n=18) were Lebanese. P.Met694Val in homozygous form (n=74; 30.5%) was correlated with a more severe disease activity, based on the score by Mor, as well as with a higher mean CRP (74 mg/l, n=60, 31 mg/l, n=59) compared to patients without this mutation (p=0.01 and p<0.01, respectively). The score suggested by Pras did not yield a significant genotype-phenotype correlation; indeed, the two scoring systems were inconsistent with each other ( <0.07). Although a typical distribution of mutations in different ethnic populations was obvious, this trend was not statistically significant, probably due to the divergent number of cases.
منابع مشابه
P01-041 – Patient management and rare FMF symptoms
Introduction Analysis of various symptoms from 20000 FMF patients indicates that several issues, including the clinical manifestation in a variety of combinations and the genotype penetrance, make FMF diagnosis and management challenging. Severe phenotypes with development of serositis, ELE, splenomegaly, and vasculitis are associated with high penetrance mutations of exon 10, mainly M694V allele.
متن کاملFMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis
Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...
متن کاملPReS-FINAL-2215: Genotype-phenotype correlations in children with Familial Mediterranean Fever in Germany
Introduction Familial Mediterranean fever (FMF) is one of the most common autoinflammatory diseases (AID). A variety of relevant mutations in the MEFV gene have been demonstrated. Pro-inflammatory S100 proteins correlate with disease activity in autoinflammatory disorders, and have been previously correlated with clinically active FMF. Here, we describe the association between these biomarkers ...
متن کاملP01-006 – MEFV mutation detection in Arabic patients
Introduction Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T-cells. Familial Mediterranean fever (FMF) is the archetypal hereditary periodic fever syndrome and autoinflammatory disorder. It is characterized by recurrent selflimiting episodes of fever and painful polyserositis....
متن کاملThe MetaFMF website: a high quality tool for meta-analysis of FMF
We present here the MetaFMF database (freely accessible at http://fmf.igh.cnrs.fr/metaFMF/index_us.html) that attempts to gather and unify, in a common resource, data on phenotype-genotype correlation in familial Mediterranean fever (FMF). A single accession form, including a large number of quality controls, has been implemented such that data, collected worldwide, are included in an homogeneo...
متن کامل