<abstract xmlns="http://www.w3.org/1999/xhtml"><p>The aim of the current study was to determine the frequency of the Mediterranean fever (<italic>MEFV</italic>) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. The <italic>MEFV</italic> gene profiles for the current FMF cohort were genotyped by pyrosequencing and direct Sanger sequencing techniques for the target pathogenic variants. The most prominent clinical symptoms were abdominal pain (53.4%), fever (23.4%) and arthritis (23.3%). Eighteen different pathogenic variants were identified and the most frequent were p.Met694Val (20.0%), p.Glu148Gln (13.3%), p.Met680 Ile (11.7%) and p.Arg202Gln (11.7%). Abdominal pain, fever and arthritis were the most common presenting clinical characteristics. Results showed that not only clinical characteristics, but also genotyping of the <italic>MEFV</italic> gene is needed to establish the correct diagnosis of FMF in children and other family members.</p></abstract>

The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. The MEFV gene profiles for the current FMF cohort were genotyped by pyrosequencing and direct Sanger sequencing techniques for the target pathogenic variants. The most prominent clinical symptoms were abdominal pain (53.4%), fever (23.4%) and arthritis (23.3%). Eighteen different pathogenic variants were identified and the most frequent were p.Met694Val (20.0%), p.Glu148Gln (13.3%), p.Met680 Ile (11.7%) and p.Arg202Gln (11.7%). Abdominal pain, fever and arthritis were the most common presenting clinical characteristics. Results showed that not only clinical characteristics, but also genotyping of the MEFV gene is needed to establish the correct diagnosis of FMF in children and other family members.

The <italic>MEFV</italic> gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population

Balkan Journal of Medical Genetics

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

The  gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population

The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial...

The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population

Article Category: Original Article

Published Online: Dec 31, 2016

Page range: 23 - 28

DOI: https://doi.org/10.1515/bjmg-2016-0032

Keywords
Amyloidosis, Children, Familial Mediterranean fever (FMF), Genotype-phenotype correlations, Pathogenic variant

© 2016 Battal F, Silan F, Topaloğlu N, Aylanç H, Yıldırım Ş, Köksal Binnetoğlu F, Tekin M, Kaymaz N, Ozdemir O

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population

Article Category: Original Article

Published Online: Dec 31, 2016

Page range: 23 - 28

DOI: https://doi.org/10.1515/bjmg-2016-0032

KeywordsAmyloidosis, Children, Familial Mediterranean fever (FMF), Genotype-phenotype correlations, Pathogenic variant

© 2016 Battal F, Silan F, Topaloğlu N, Aylanç H, Yıldırım Ş, Köksal Binnetoğlu F, Tekin M, Kaymaz N, Ozdemir O

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Keywords
Amyloidosis, Children, Familial Mediterranean fever (FMF), Genotype-phenotype correlations, Pathogenic variant