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A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever

BACKGROUND: Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 296 mutations have been reported to date. METHODS: Two two-generation Turkish fa...

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Autores principales: Dogan, Hasan, Akdemir, Fatih, Tasdemir, Sener, Atis, Omer, Diyarbakir, Eda, Yildirim, Rahsan, Emet, Mucahit, Ikbal, Mevlit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4094690/
https://www.ncbi.nlm.nih.gov/pubmed/24980720
http://dx.doi.org/10.1186/1471-2350-15-74
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author Dogan, Hasan
Akdemir, Fatih
Tasdemir, Sener
Atis, Omer
Diyarbakir, Eda
Yildirim, Rahsan
Emet, Mucahit
Ikbal, Mevlit
author_facet Dogan, Hasan
Akdemir, Fatih
Tasdemir, Sener
Atis, Omer
Diyarbakir, Eda
Yildirim, Rahsan
Emet, Mucahit
Ikbal, Mevlit
author_sort Dogan, Hasan
collection PubMed
description BACKGROUND: Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 296 mutations have been reported to date. METHODS: Two two-generation Turkish families with a total of four members diagnosed with FMF clinically were screened with DNA sequencing performed on exon 2 and exon 10 of the MEFV genes. Then, complete exome sequencing analysis of MEFV gene was done for four patients in whom novel mutation was detected. RESULTS: A novel single base Guanine (G) insertion mutation in the coding region of MEFV gene, named c.2330dupG (p.Gln778Serfs*4 or Q778SfsX4) resulting in a mutated Pyrin/Marenostrin protein was identified. CONCLUSIONS: This is the first report of a new mutation in exon 10 of the MEFV gene in two Turkish families. This novel pattern of insertion mutation may provide important information for further studies on FMF pathogenesis.
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spelling pubmed-40946902014-07-13 A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever Dogan, Hasan Akdemir, Fatih Tasdemir, Sener Atis, Omer Diyarbakir, Eda Yildirim, Rahsan Emet, Mucahit Ikbal, Mevlit BMC Med Genet Research Article BACKGROUND: Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 296 mutations have been reported to date. METHODS: Two two-generation Turkish families with a total of four members diagnosed with FMF clinically were screened with DNA sequencing performed on exon 2 and exon 10 of the MEFV genes. Then, complete exome sequencing analysis of MEFV gene was done for four patients in whom novel mutation was detected. RESULTS: A novel single base Guanine (G) insertion mutation in the coding region of MEFV gene, named c.2330dupG (p.Gln778Serfs*4 or Q778SfsX4) resulting in a mutated Pyrin/Marenostrin protein was identified. CONCLUSIONS: This is the first report of a new mutation in exon 10 of the MEFV gene in two Turkish families. This novel pattern of insertion mutation may provide important information for further studies on FMF pathogenesis. BioMed Central 2014-07-01 /pmc/articles/PMC4094690/ /pubmed/24980720 http://dx.doi.org/10.1186/1471-2350-15-74 Text en Copyright © 2014 Dogan et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Dogan, Hasan
Akdemir, Fatih
Tasdemir, Sener
Atis, Omer
Diyarbakir, Eda
Yildirim, Rahsan
Emet, Mucahit
Ikbal, Mevlit
A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever
title A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever
title_full A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever
title_fullStr A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever
title_full_unstemmed A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever
title_short A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever
title_sort novel insertion mutation identified in exon 10 of the mefv gene associated with familial mediterranean fever
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4094690/
https://www.ncbi.nlm.nih.gov/pubmed/24980720
http://dx.doi.org/10.1186/1471-2350-15-74
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