M M editerranean fever ( MEFV MEFV ) gene profile and a novel missense mutation ( P313H P313H ) in Iranian Azari‐Turkish patients

摘要

Abstract Background Familial Mediterranean fever (FMF) is common in Azari‐Turkish people, one of the biggest ethnic groups in Iran. In this study, we sought to investigate the mutation spectrum of the MEFV gene and any genotype–phenotype correlations. Methods and materials 400 unrelated Azari‐Turkish FMF patients were analyzed in this study. Mutations in exons 2, 3, 5, and 10 of the MEFV gene were investigated using direct Sanger sequencing, and their correlations with the clinical features of the patients were analyzed. Results At least one mutation was detected in 248 (62%) patients. The most common mutations were M694V (26.25%) and E148Q (24.75%), respectively. Abdominal pain (65.2%) and fever 204 (51%) were the most frequent clinical problems in all subjects. The analysis recognized a novel missense mutation in the coding region of the MEFV gene, named P313H , which is the first report of a new mutation in exon 2 of the MEFV gene in an Azari‐Turkish family. Conclusion Genotype–phenotype correlations obtained from this study would be helpful in the diagnosis and management of FMF patients in clinical situations. This novel missense mutation may provide useful evidence for further studies of FMF pathogenesis.