High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey

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dc.contributor.authorUluca, Unal
dc.contributor.authorEce, Aydin
dc.contributor.authorSen, Velat
dc.contributor.authorCoskun, Salih
dc.contributor.authorGunes, Ali
dc.contributor.authorYel, Servet
dc.contributor.authorTan, Ilhan
dc.date.accessioned2024-04-24T17:27:51Z
dc.date.available2024-04-24T17:27:51Z
dc.date.issued2015
dc.departmentDicle Üniversitesien_US
dc.description.abstractObjective: The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey. Methods: A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms onset, age at FMF diagnosis, delay between symptoms onset and diagnosis, FMF attack symptoms, and response to colchicine. Disease severity scores were calculated and MEFV mutation analysis was performed via real-time PCR for the 6 most frequent mutations. Children with comorbid diseases or tested negative for MEFV gene mutations were excluded to provide homogeneity. Results: A family history of FMF was found in 60.2% (n=305) of patients. The most common symptoms reported for FMF attacks were abdominal pain (98.0%), fever (93.9%) and arthralgia (47.3%); 75.0% of patients (n= 380) were heterozygous, 14.2% were homozygous (n= 72) and 10.8% were compound heterozygous (n= 55). The following MEFV gene mutation alleles were identified: E148Q (40.1%), M694V (25.9%), V726A (15.8%), R761H (7.4%), M680I (6.8%), and P369S (4.1%). The M694V subgroup had the lowest mean age of disease onset and the highest mean disease severity score, whereas the E148Q group had later mean disease onset and the lowest mean disease severity score (p<0.05). Conclusion: The highest E148Q mutation frequency and milder disease in the course of FMF in our study population may be due to geographic and ethnic background dissimilarities of southeast Turkey.en_US
dc.identifier.doi10.5546/aap.2015.eng.133
dc.identifier.endpage139en_US
dc.identifier.issn0325-0075
dc.identifier.issn1668-3501
dc.identifier.issue2en_US
dc.identifier.pmid25727825
dc.identifier.scopus2-s2.0-84928113206
dc.identifier.scopusqualityQ3
dc.identifier.startpage133en_US
dc.identifier.urihttps://doi.org/10.5546/aap.2015.eng.133
dc.identifier.urihttps://hdl.handle.net/11468/20223
dc.identifier.volume113en_US
dc.identifier.wosWOS:000354941500025
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherSoc Argentina Pediatriaen_US
dc.relation.ispartofArchivos Argentinos De Pediatria
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFamilial Mediterranean Feveren_US
dc.subjectGenotypeen_US
dc.subjectPhenotypeen_US
dc.subjectMutationen_US
dc.subjectSoutheast Turkeyen_US
dc.titleHigh frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkeyen_US
dc.titleHigh frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey
dc.typeArticleen_US

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