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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Dosyalar
Tarih
2016
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Duzce Univ
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Familial 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.
Açıklama
WOS: 000392948600010
Anahtar Kelimeler
FMF, MEFV Gene, Duplication Mutation, Complete Exom Sequencing Analysis
Kaynak
Konuralp Tıp Dergisi
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
8
Sayı
3
