fmf genotype-phenotype correlation in iranian azeri turks: association between m694v/r761h mutation and amyloidosis

FMF 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 ...

FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis

OBJECTIVES 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 th...

Genotype-Phenotype Correlation Expressed as Cardiac Amyloidosis in “FMF-like” Disease

Familial Mediterranean Fever, the most common autoinflammatory disease, is inherited in an autosomal recessive pattern. During the recent years, a new phenotype has been described concerning heterozygous carriers of Mediterranean Fever (MEFV) mutations that express typical clinical features of Familial Mediterranean Fever (FMF). This new pattern of genotype-phenotype correlation is called “FMF-...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

Tumor necrosis factor-α gene polymorphisms in FMF and their association with amyloidosis.

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by periodic provocative attacks of fever with peritonitis, pleuritis, arthritis, or eriseplemya. Tumor necrosis factor-α (TNF-α) plays an important role in the regulation of the immune response as a part of the cytokine network, including activation of macrophages and apoptosis. We investigated the possible asso...

No correlation between phenotype and genotype in boys with a truncating MECP2 mutation.

Rett syndrome (RS, MIM 312750) is an X linked dominant neurodevelopmental disorder, which has been considered to affect girls only. Males were thought to be aborted spontaneously or to have a different phenotype. The disease is caused by mutations in MECP2, encoding a methyl-CpG binding protein MeCP2. MeCP2 is an abundantly expressed protein acting as a global transcription repressor. The prote...