What type of mutation is FMF?

FMF is a recessive genetic disease associated with missense and nonsense mutations in the MEFV gene, which is located on the short arm of chromosome 16. This gene codes for the protein known as pyrin or marenostrin.

What are the mutations in the MEFV gene in FMF?

Distribution of MEFV alleles in the studied population. Types of Mutations in the Studied Population. Heterozygous and homozygous gene mutations were found in 419 patients. The most commonly encountered gene mutations were E148Q (38.6%), M694I (18.1%), and V726A (15.8%) (Figure 2).

Is FMF dominant or recessive?

Familial Mediterranean fever is usually inherited in an autosomal recessive pattern , which means both copies of the MEFV gene in each cell have variants.

What causes heterozygous mutations?

In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two …

How is FMF diagnosed?

A diagnosis of FMF can be confirmed by molecular genetic testing, which can identify the characteristic MEFV gene mutations that cause the disorder. Molecular genetic testing is available through commercial and academic diagnostic laboratories.

What is compound heterozygous mutation?

Compound heterozygous mutations are mutations that occur on different copies of genes and may completely “knock-out” gene function.

What does it mean if someone is heterozygous for a gene?

Heterozygous refers to having inherited different forms of a particular gene from each parent. A heterozygous genotype stands in contrast to a homozygous genotype, where an individual inherits identical forms of a particular gene from each parent.