The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family

Résumé

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is inherited in an autosomal recessive manner and is caused by mutations in the MEFV gene. As the name indicates, FMF occurs within families and is more common in individuals of Mediterranean descent than in persons of any other ethnicity. To date, 314 mutations have been reported. We studied a Moroccan family with a total of five members, including a mother who was presenting with symptoms of FMF, while her four children remained asymptomatic. The five patients were screened by DNA sequencing of exon 2 and exon 10 of the MEFV gene. Then, complete exome sequencing analysis of the MEFV gene was done for the patients in whom a novel mutation was detected. This analysis identified a novel single base Cytosine (C) insertion mutation in the coding region of the MEFV gene, named c.441dupC (p. Glu148Argfs*5 or E148RfsX5), which resulted in a mutated Pyrin/Marenostrin protein. This is the first report of a new mutation in exon 2 of the MEFV gene in a Moroccan family. This novel insertion mutation may provide important information for further studies of FMF pathogenesis. Researchers have identified a novel mutation associated with familial Mediterranean fever (FMF), a rare autoimmune disorder. FMF is more common in individuals of Mediterranean ancestry, and is caused by mutations in the MEFV gene, resulting in fever, abdominal pain, and skin lesions; over 300 different mutations have been identified to date. Only individuals carrying two mutated copies of the MEFV gene show symptoms. Touhami Mejtoute at the Hassan II University Hospital in Fez and co-workers in Morocco studied FMF in a Moroccan mother with FMF and her four asymptomatic children. Sequencing revealed a single, novel MEFV mutation; the mother carried two copies, and each child carried only one. The mutation is predicted to affect the function of the immune-related pyrin protein. These data may help in understanding the pathogenesis of this rare disease.

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