The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population-Reference-Cited by-同舟云学术

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

Published:2016-12-01 Issue:2 Volume:19 Page:23-28
ISSN:1311-0160
Container-title:Balkan Journal of Medical Genetics
language:en
Short-container-title:

Author:

Battal F¹,Silan F²,Topaloğlu N¹,Aylanç H¹,Yıldırım Ş¹,Köksal Binnetoğlu F¹,Tekin M¹,Kaymaz N¹,Ozdemir O²³

Affiliation:

1. Department of Pediatrics , Faculty of Medicine , Çanakkale Onsekiz Mart University 17100 , Çanakkale , Turkey

2. Department of Medical Genetics , Faculty of Medicine , Çanakkale Onsekiz Mart University 17100 , Çanakkale , Turkey

3. Department of Medical Genetics , Faculty of Medicine , Cumhuriyet University 58140 , Sivas , Turkey

Abstract

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.

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Ozdemir O, Sezgin I, Kucuk KH, Candan F, Koksal B, Sumer H, et al. Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers. Mol Biol Rep. 2011; 38(5): 3195-3200.

2. Ozalkaya E, Mir S, Sozeri B, Berdeli A, Mutlubas F, Cura A. Familial Mediterranean fever gene mutation frequencies and genotype-phenotype correlations in the Aegean region of Turkey. Rheumatol Int. 2011; 31(6): 779-784.

3. Saatçi Ü, Bakkaloğlu A, Özen S, Beşbaş N. Familial Mediterranean and amyloidosis in children. Acta Paediatr. 1993; 82(8): 705-706.

4. Aldea A, Calafell F, Aróstegui JI, Lao O, Rius J, Plaza S, et al. The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination “hotspot” at the MEFV locus. Hum Mutat. 2004; 23(4): 399-406.

5. Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1β production. Proc Natl Acad Sci USA. 2006; 103(26): 9982-9987.

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Impact of Different MEFV Genotypes on Clinical Phenotype of Patients with Familial Mediterranean Fever: Special Emphasis on Joint Involvement;European Journal of Pediatrics;2024-08-07

2. Clinical and Laboratory Parameters of Autoinflammatory Disorders in Single Tertiary Care Center;Iranian Journal of Allergy, Asthma and Immunology;2022-04-17

3. The Effect of Gene Mutations on Disease Severity Scores in Pediatric Familial Mediterranean Fever Patients;Genel Tıp Dergisi;2022-02-28

4. The Clinical Effect of Gene Mutations in Familial Mediterranean Fever Disease;Pediatrics International;2021-11-07

5. Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia;Annals of Saudi Medicine;2019-12