Familial Mediterranean Fever is commonly associated with which genetic mutation?

Familial Mediterranean Fever (FMF) is primarily associated with mutations in the MEFV gene, which encodes the protein pyrin. Pyrin plays a crucial role in the regulation of inflammatory responses, and mutations in the MEFV gene lead to dysregulation of inflammation. Patients with FMF experience recurrent episodes of fever and painful inflammation, often in the abdomen, chest, or joints. The specific mutations in MEFV affect the function of pyrin, ultimately resulting in the inflammatory symptoms characteristic of this condition.

In contrast, the other genes mentioned are associated with different conditions. KMT2D mutations are linked to Kabuki syndrome, NIPBL mutations are associated with Cornelia de Lange syndrome, and ACVRL1 mutations are related to Hereditary Hemorrhagic Telangiectasia. None of these genes are involved in FMF, making MEFV the definitive gene responsible for this disorder.