Related Experiment Video

Updated: Apr 5, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.4K

Global epidemiology of Familial Mediterranean fever mutations using population exome sequences

Kohei Fujikura1

  • 1Kobe University School of Medicine 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.

Molecular Genetics & Genomic Medicine
|August 7, 2015
PubMed

Insights

Familial Mediterranean fever (FMF) genetic epidemiology reveals population-specific MEFV mutation carrier rates. High rates suggest some mutations may be benign, necessitating careful analysis for inherited disorders.

Area of Science:

  • Genetics
  • Epidemiology
  • Molecular Biology

Background:

  • Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder.
  • Recurrent episodes of fever, sterile peritonitis, arthritis, and pleuritis characterize FMF.
  • While MEFV gene mutations cause FMF, epidemiological data and penetrance are not well-established globally.

Purpose of the Study:

  • To establish the genetic epidemiology of Familial Mediterranean fever (FMF) mutations.
  • To determine carrier rates and population specificity of MEFV mutations.
  • To investigate the significance of high carrier rates and potential benign variants.

Main Methods:

  • Utilized two large-scale population exome studies.
  • Analyzed 57 known FMF-associated mutations.
  • Determined carrier rates for MEFV mutations across 28 populations in 19 countries.

Main Results:

  • Detected 22 of 57 FMF mutations in 9007 individuals.
  • Revealed significant population specificity for MEFV mutation frequencies.
  • Observed unexpectedly high carrier rates for certain mutations.

Conclusions:

  • High carrier rates suggest some MEFV mutations may be benign variants.
  • Caution is needed when interpreting MEFV mutations for FMF diagnosis.
  • This approach can help elucidate penetrance in other inherited disorders.
Keywords:
Allele frequencyFamilial Mediterranean feverepidemiologyexomegenetic diagnosis

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
16.7K
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
1.1K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
10.1K
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
1.6K