Frequency MEFV gene 12 mutations in a sample of Egyptian patients with familial Mediterranean fever disease in relation disease presentation

الملخص EN

Background: Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease that results from point mutations in the Mediterranean Fever (MEFV) gene on the short arm of chromosome 16.

To date, more than 310 MEFV sequence variants have been reported including the most common M694V, V726A, M680I and M694J mutations.

Alms To assess the distribution of MEFV gene mutations in a sample of Egyptian patients with FMF, to find certain genotype- phenotype correlation.

Patients& Methods: This was a cross- sectional study on one hundred fifty eight patients who were diagnosed primarily on clinical basis to have FMF then to be genetically tested for the most common 12 mutations in the MEFV gene in the Medical Genetics Unit; Paediatric Hospital; Ain Shams University, Cairo, Egypt.

Results: The study revealed that E148Q, M694I, V726A, M6801 and M694V are the most common mutations of MEFV gene and that M691V, F479L.

and I692del mutations did not appear in our study population.

Non- abdominal surgeries are almost 2.75 times more common than that of abdominal surgeries in the 5 common FMF mutations.

Conclusion: FMF in our study population did show great diversity in terms of age of onset, presentation, severity and response to treatment.

This could be attributed to the heterogeneity of the disease; multiplicity of the mutations and that every mutation could present as heterozygous, homozygous and compound heterozygous.