Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V).

[familial mediterranean fever]

In the present study , 1000 patients with clinical suspicion of FMF were retrospectively reviewed to determine the spectrum of MEFV gene mutations by using DNA sequence analysis between September , 2008 and April , 2012 . Sixteen different mutations and 55 different genotypes were detected in 618 of 1000 patients . Among 16 different mutations , R 202 Q (21 .35 %) was the most frequently observed mutation ; followed by E 148 Q (8 .85 %), M 694 V (7 .95 %), M 680 I (2 .40 %), V 726 A (1 .85 %), M 694 I (0 .95 %), A 744 S (0 .80 %), R 761 H (0 .55 %), P 283 L (0 .35 %), K 695 R (0 .20 %), E 230 K (0 .15 %), L 110 P (0 .10 %), I 247 V (0 .05 %), G 196 W (0 .05 %) and G 304 R (0 .05 %). In the present study , a novel missense mutation (I 247 V ) and a silent variant (G 150 G ) were identified in the MEFV gene . On the other hand , P 238 L , G 632 A and G 304 R mutations are the first cases reported from Turkey . Our results indicated that MEFV mutations are highly heterogeneous in our study population as in other regions of Turkey and mutation screening techniques such as PCR-RFLP , amplification refractory mutation system or reverse hybridization do not adequately detect uncommon or novel mutations . Therefore , it was proven that sequence analysis of the MEFV gene could be useful for detection of rare or unknown mutations .