بيمار FMF با موتاسيون ژني سه گانه

صالح زاده, فرهاد and فتحی, افشین (1394) بيمار FMF با موتاسيون ژني سه گانه. Medical Archives ــ 69 (4). pp. 269-270. شاپا 199x-0350

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Patient with FMF and Triple MEFV Gene Mutations

English Abstract

Introduction: Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease with monogenic (MEditerranean FeVer –MEFV- gene) inherited pattern. It mainly affects ethnic groups living along the eastern Mediterranean Sea: Turks, Sephardic Jews, Armenians, and Arabs [1]. Today FMF is not rare disease in other Mediterranean ethnicities, such as Greeks, Italians, and Iranians. Case report: Here we report a child with complex allele mutations E148Q/V726A/R761H, whilst, whose mother showed E148Q/V726A and his father had R761H/wt in analysis. The severity of the disease and genotype-phenotype correlation of patient showed no significant differences with his mother and other patients with the same two mutations, V726A/R761H, E148Q/V726A, and E148Q/ R761H. Conclusion: This type of mutation is the first report of triple mutations in FMF patients with no specific phenotype correlation.

Item Type:Article
زبان سند : انگلیسی
نویسنده مسئول :فرهاد صالح زاده
نویسنده :افشین فتحی
Additional Information:Indexed in: Pubmed \Index medicus\Medline, Embase, DOAJ, Index Copernicus, Google Scholar, ScopeMed
کلیدواژه ها (انگلیسی):FMF, MEFV Gene, Triple mutations
Subjects:WS Pediatrics
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:6896
Deposited By: Ms Zeynab Imani
Deposited On:07 Jun 1394 06:32
Last Modified:07 Jun 1394 06:32

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