A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients
BACKGROUND AND OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin. FMF is especially prevalent among Turks, Armenians, non-Ashkenazi Jews, and Arabs. The aim of this study was to determine the frequency and spectrum...
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King Faisal Specialist Hospital and Research Centre
2012-07-01
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doaj-d7e64468930d4b4287d6b11b0b8544df2020-11-24T21:26:47ZengKing Faisal Specialist Hospital and Research CentreAnnals of Saudi Medicine0256-49470975-44662012-07-0132434334810.5144/0256-4947.2012.343asm-4-343A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patientsMunis Dundar0Aslihan Kiraz1Elif Funda Emirogullari2Çetin Saatci3Serpil Taheri4Mevlut Baskol5Seher Polat6Yusuf Özkul7From the Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, TurkeyFrom the Maternity and Children Hospital, Medical Genetics Department, Mersin, TurkeyFrom the Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, TurkeyFrom the Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, TurkeyFrom the Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, TurkeyFrom the Department of Gastroenterology, Erciyes University Medical Faculty, Kayseri, TurkeyFrom the Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, TurkeyFrom the Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, TurkeyBACKGROUND AND OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin. FMF is especially prevalent among Turks, Armenians, non-Ashkenazi Jews, and Arabs. The aim of this study was to determine the frequency and spectrum of 12 MEFV mutations of these patients and any genotype-phenotype correlation in this large Turkish group. DESIGN AND SETTING: A retrospective study at Erciyes University Medical Faculty, from January 2007 to June 2009. PATIENTS AND METHODS: We enrolled 446 Turkish FMF patients and identified the known 12 MEFV mutations with clinical investigations. DNA was amplified by PCR and subjected to reverse hybridization for the detection of MEFV gene mutations. RESULTS: Among the 446 patients, 103 (46.6%) had a heterozygous genotype, 44 (19.9%) had a homozygous genotype, and 74 (33.49%) had a compound heterozygous genotype. The most common mutation detected was heterozygote M694V (46/221). Of the included 446 patients, 218 (48.87%) were male and 228 (51.12%) were female. High parental consanguinity rates affect FMF development. The clinical spectrum varied with different mutation profiles. CONCLUSIONS: This study plays an important role in detecting the distribution of MEFV mutations and determining clinical approaches among Turk FMF patients. Also, we seemed to detect a distinctive clinical picture, specifically a lower frequency of amyloidosis.https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2012.343 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Munis Dundar Aslihan Kiraz Elif Funda Emirogullari Çetin Saatci Serpil Taheri Mevlut Baskol Seher Polat Yusuf Özkul |
spellingShingle |
Munis Dundar Aslihan Kiraz Elif Funda Emirogullari Çetin Saatci Serpil Taheri Mevlut Baskol Seher Polat Yusuf Özkul A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients Annals of Saudi Medicine |
author_facet |
Munis Dundar Aslihan Kiraz Elif Funda Emirogullari Çetin Saatci Serpil Taheri Mevlut Baskol Seher Polat Yusuf Özkul |
author_sort |
Munis Dundar |
title |
A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients |
title_short |
A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients |
title_full |
A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients |
title_fullStr |
A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients |
title_full_unstemmed |
A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients |
title_sort |
molecular analysis of familial mediterranean fever disease in a cohort of turkish patients |
publisher |
King Faisal Specialist Hospital and Research Centre |
series |
Annals of Saudi Medicine |
issn |
0256-4947 0975-4466 |
publishDate |
2012-07-01 |
description |
BACKGROUND AND OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin. FMF is especially prevalent among Turks, Armenians, non-Ashkenazi Jews, and Arabs. The aim of this study was to determine the frequency and spectrum of 12 MEFV mutations of these patients and any genotype-phenotype correlation in this large Turkish group. DESIGN AND SETTING: A retrospective study at Erciyes University Medical Faculty, from January 2007 to June 2009. PATIENTS AND METHODS: We enrolled 446 Turkish FMF patients and identified the known 12 MEFV mutations with clinical investigations. DNA was amplified by PCR and subjected to reverse hybridization for the detection of MEFV gene mutations. RESULTS: Among the 446 patients, 103 (46.6%) had a heterozygous genotype, 44 (19.9%) had a homozygous genotype, and 74 (33.49%) had a compound heterozygous genotype. The most common mutation detected was heterozygote M694V (46/221). Of the included 446 patients, 218 (48.87%) were male and 228 (51.12%) were female. High parental consanguinity rates affect FMF development. The clinical spectrum varied with different mutation profiles. CONCLUSIONS: This study plays an important role in detecting the distribution of MEFV mutations and determining clinical approaches among Turk FMF patients. Also, we seemed to detect a distinctive clinical picture, specifically a lower frequency of amyloidosis. |
url |
https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2012.343 |
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