A FAMILY FROM TURKEY WITH 761_764DUPCCGC (p.ASN256ARGFS70,c.761_764DUPCCGC) MEFV GENE MUTATION, THEIR CLINICAL FEATURES AND REVIEW OF THE LITERATURE

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dc.contributor.authorEröz, Recep
dc.contributor.authorDoğan, Mustafa
dc.contributor.authorYüce, Hüseyin
dc.contributor.authorÖzmerdivenli, Recep
dc.date.accessioned2020-04-30T22:38:39Z
dc.date.available2020-04-30T22:38:39Z
dc.date.issued2016
dc.departmentDÜ, Tıp Fakültesi, Temel Tıp Bilimleri Bölümüen_US
dc.descriptionWOS: 000392948600010en_US
dc.description.abstractFamilial Mediterranean Fever (FMF) is an autosomal recessive hereditary disease that mainly affects Armenian, Jewish, Turkish and Arab populations and the most common and best understood periodic fever disease. The Mediterranean Fever (MEFV) gene is responsible for the disease. This gene including 10 exon and placed on chromosome 16p13.3. A family from Turkey with a total of five members clinically diagnosed as FMF are examined. All exom sequencing analysis of MEFV gene was done for all family members. According to our results, a 761_764dupCCGC (p.Asn256Argfs70,c.761_764dupCCGC) duplication mutation was detected in exon 2 of MEFV gene. Although our proband, his brother, sister and father have carried this mutation, the probands' mother has not any mutation. There is only one case with this mutation (HGMD no: CI055758) in the literature and limited information about clinical datas of the patient was shared. The proband has no family history of FMF but has chest and abdominal pain. Interestingly, the others family members with this mutation has no clinical findings for FMF. According to the PolyPhen-2 and Mutation Taster bioinformatics programs, this duplication seems to be pathogenic. Futher studies are needed to obtain more clear information about the 761_764dupCCGC mutation. We thought that this duplication mutation may give significant knowledge for future research on FMF pathogenesis.en_US
dc.identifier.endpage217en_US
dc.identifier.issn1309-3878
dc.identifier.issue3en_US
dc.identifier.startpage214en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12684/2349
dc.identifier.volume8en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isotren_US
dc.publisherDuzce Univen_US
dc.relation.ispartofKonuralp Tıp Dergisi
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFMFen_US
dc.subjectMEFV Geneen_US
dc.subjectDuplication Mutationen_US
dc.subjectComplete Exom Sequencing Analysisen_US
dc.titleA FAMILY FROM TURKEY WITH 761_764DUPCCGC (p.ASN256ARGFS70,c.761_764DUPCCGC) MEFV GENE MUTATION, THEIR CLINICAL FEATURES AND REVIEW OF THE LITERATUREen_US
dc.typeArticleen_US

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