Familial Mediterranean Fever - Genetics

Genetics

The MEFV gene is located on the short arm of chromosome 16 (16p13). The disorder inherits in an autosomal recessive fashion. Therefore, two asymptomatic carrier parents have a 25% chance of a child with the disorder, a 50% chance of a child who is an asymptomatic carrier and a 25% chance of a child who does not carry the disorder. FMF patients who have children with a carrier or another FMF patient have a 50% and 100% chance, respectively, of having a child with FMF.

There is one known case of an affected patient with only one parent who is a carrier. This is caused by a unique mutation on the sixteenth chromosome.