Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Munis Dundar, Umut Fahrioglu, Saliha Handan Yildiz, Burcu Bakir-Gungor, Sehime Gulsun Temel, Haluk Akin, Sevilhan Artan, Tulin Cora, Feride Iffet Sahin, Ahmet Dursun, Ozlem Sezer, Hakan Gurkan, Murat Erdogan, C Nur Semerci Gunduz, Atil Bisgin, Ozturk Ozdemir, Ayfer Ulgenalp, E Ferda Percin, Malik Ejder Yildirim, Selahaddin Tekes, Haydar Bagis, Huseyin Yuce, Nilgun Duman, Gokay Bozkurt, Kanay Yararbas, Mahmut Selman Yildirim, Ahmet Arman, Ercan Mihci, Serpil Eraslan, Zuhal Mert Altintas, Huri Sema Aymelek, Hatice Ilgin Ruhi, Abdulgani Tatar, Mahmut Cerkez Ergoren, G Ozan Cetin, Umut Altunoglu, Ahmet Okay Caglayan, Berrin Yuksel, Yusuf Ozkul, Cetin Saatci, Sercan Kenanoglu, Nilgun Karasu, Bilge Dundar, Firat Ozcelik, Mikail Demir, Betul Seyhan Siniksaran, Hande Kulak, Kubra Kiranatlioglu, Kubra Baysal, Ulviyya Kazimli, Hilal Akalin, Ayca Dundar, Mehmet Boz, Arslan Bayram, Asli Subasioglu, Fatma Kurt Colak, Neslihan Karaduman, Meltem Cerrah Gunes, Nefise Kandemir, Busra Aynekin, Rabia Emekli, Izem Olcay Sahin, Sevda Yesim Ozdemir, Muge Gulcihan Onal, Abdurrahman Soner Senel, Muammer Hakan Poyrazoglu, Ayse Nur Pac Kisaarslan, Sebnem Gursoy, Mevlut Baskol, Mustafa Calis, Huseyin Demir, Gozde Erturk Zararsiz, Mujgan Ozdemir Erdogan, Muhsin Elmas, Mustafa Solak, Memnune Sena Ulu, Adam Thahir, Zafer Aydin, Umut Atasever, Sebnem Ozemri Sag, Lamiya Aliyeva, Adem Alemdar, Berkcan Dogan, Cemre Ornek Erguzeloglu, Niyazi Kaya, Ferda Ozkinay, Ozgur Cogulu, Asude Durmaz, Huseyin Onay, Emin Karaca, Burak Durmaz, Ayca Aykut, Oguz Cilingir, Beyhan Durak Aras, Ebru Erzurumluoglu Gokalp, Serap Arslan, Arda Temena, Konul Haziyeva, Sinem Kocagil, Hasan Bas, Ezgi Susam, Ali Riza Keklikci, Elif Sarac, Nadir Kocak, Suleyman Nergiz, Yunus Kasim Terzi, Selin Akad Dincer, Esra Sidika Baskin, Gunes Cakmak Genc, Oguzhan Bahadir, Aslihan Sanri, Serbulent Yigit, Hilmi Tozkir, Sinem Yalcintepe, Nese Ozkayin, Aslihan Kiraz, Burhan Balta, Gizem Akinci Gonen, E Emre Kurt, Gulay Gulec Ceylan, Ahmet Cevdet Ceylan, Sukran Erten, Sevcan Tug Bozdogan, Ibrahim Boga, Mustafa Yilmaz, Fatma Silan, Mehmet Kocabey, Altug Koc, Tufan Cankaya, Elcin Bora, Ozlem Giray Bozkaya, Derya Ercal, Mehmet Ali Ergun, Sezen Guntekin Ergun, Yesim Sidar Duman, Serife Busra Beyazit, Veysiye Hulya Uzel, Serda Em, Muhammer Ozgur Cevik, Recep Eroz, Mercan Demirtas, Cem Koray Firat, Zehra Manav Kabayegit, Mustafa Altan, Lamiya Mardan, Ceyhan Sayar, Sait Tumer, Burcu Turkgenc, Hilal Keskin Karakoyun, Betul Tunc, Seda Kuru, Aysegul Zamani, Bilgen Bilge Geckinli, Esra Arslan Ates, Ozden Altiok Clark, Asli Toylu, Mert Coskun, Banu Nur, Ilmay Bilge, Oya Uygur Bayramicli, Hakan Emmungil, Zeynep Komesli, Mujdat Zeybel, Figen Gurakan, Mehmet Tasdemir, Rejin Kebudi, Halil Gurhan Karabulut, Timur Tuncali, Nuket Yurur Kutlay, Cigdem Yuce Kahraman, Nerin Bahceciler Onder, Ilke Beyitler, Salih Kavukcu, Pinar Tulay, Ozgur Tosun, Gulten Tuncel, Gamze Mocan, Hamdi Kale, Zehra Oya Uyguner, Aynur Acar, Mert Altinay, Levent Erdem, National Genetics Consortium Study
Functional & integrative genomics 2022 JunFamilial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease. © 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
Citation
Munis Dundar, Umut Fahrioglu, Saliha Handan Yildiz, Burcu Bakir-Gungor, Sehime Gulsun Temel, Haluk Akin, Sevilhan Artan, Tulin Cora, Feride Iffet Sahin, Ahmet Dursun, Ozlem Sezer, Hakan Gurkan, Murat Erdogan, C Nur Semerci Gunduz, Atil Bisgin, Ozturk Ozdemir, Ayfer Ulgenalp, E Ferda Percin, Malik Ejder Yildirim, Selahaddin Tekes, Haydar Bagis, Huseyin Yuce, Nilgun Duman, Gokay Bozkurt, Kanay Yararbas, Mahmut Selman Yildirim, Ahmet Arman, Ercan Mihci, Serpil Eraslan, Zuhal Mert Altintas, Huri Sema Aymelek, Hatice Ilgin Ruhi, Abdulgani Tatar, Mahmut Cerkez Ergoren, G Ozan Cetin, Umut Altunoglu, Ahmet Okay Caglayan, Berrin Yuksel, Yusuf Ozkul, Cetin Saatci, Sercan Kenanoglu, Nilgun Karasu, Bilge Dundar, Firat Ozcelik, Mikail Demir, Betul Seyhan Siniksaran, Hande Kulak, Kubra Kiranatlioglu, Kubra Baysal, Ulviyya Kazimli, Hilal Akalin, Ayca Dundar, Mehmet Boz, Arslan Bayram, Asli Subasioglu, Fatma Kurt Colak, Neslihan Karaduman, Meltem Cerrah Gunes, Nefise Kandemir, Busra Aynekin, Rabia Emekli, Izem Olcay Sahin, Sevda Yesim Ozdemir, Muge Gulcihan Onal, Abdurrahman Soner Senel, Muammer Hakan Poyrazoglu, Ayse Nur Pac Kisaarslan, Sebnem Gursoy, Mevlut Baskol, Mustafa Calis, Huseyin Demir, Gozde Erturk Zararsiz, Mujgan Ozdemir Erdogan, Muhsin Elmas, Mustafa Solak, Memnune Sena Ulu, Adam Thahir, Zafer Aydin, Umut Atasever, Sebnem Ozemri Sag, Lamiya Aliyeva, Adem Alemdar, Berkcan Dogan, Cemre Ornek Erguzeloglu, Niyazi Kaya, Ferda Ozkinay, Ozgur Cogulu, Asude Durmaz, Huseyin Onay, Emin Karaca, Burak Durmaz, Ayca Aykut, Oguz Cilingir, Beyhan Durak Aras, Ebru Erzurumluoglu Gokalp, Serap Arslan, Arda Temena, Konul Haziyeva, Sinem Kocagil, Hasan Bas, Ezgi Susam, Ali Riza Keklikci, Elif Sarac, Nadir Kocak, Suleyman Nergiz, Yunus Kasim Terzi, Selin Akad Dincer, Esra Sidika Baskin, Gunes Cakmak Genc, Oguzhan Bahadir, Aslihan Sanri, Serbulent Yigit, Hilmi Tozkir, Sinem Yalcintepe, Nese Ozkayin, Aslihan Kiraz, Burhan Balta, Gizem Akinci Gonen, E Emre Kurt, Gulay Gulec Ceylan, Ahmet Cevdet Ceylan, Sukran Erten, Sevcan Tug Bozdogan, Ibrahim Boga, Mustafa Yilmaz, Fatma Silan, Mehmet Kocabey, Altug Koc, Tufan Cankaya, Elcin Bora, Ozlem Giray Bozkaya, Derya Ercal, Mehmet Ali Ergun, Sezen Guntekin Ergun, Yesim Sidar Duman, Serife Busra Beyazit, Veysiye Hulya Uzel, Serda Em, Muhammer Ozgur Cevik, Recep Eroz, Mercan Demirtas, Cem Koray Firat, Zehra Manav Kabayegit, Mustafa Altan, Lamiya Mardan, Ceyhan Sayar, Sait Tumer, Burcu Turkgenc, Hilal Keskin Karakoyun, Betul Tunc, Seda Kuru, Aysegul Zamani, Bilgen Bilge Geckinli, Esra Arslan Ates, Ozden Altiok Clark, Asli Toylu, Mert Coskun, Banu Nur, Ilmay Bilge, Oya Uygur Bayramicli, Hakan Emmungil, Zeynep Komesli, Mujdat Zeybel, Figen Gurakan, Mehmet Tasdemir, Rejin Kebudi, Halil Gurhan Karabulut, Timur Tuncali, Nuket Yurur Kutlay, Cigdem Yuce Kahraman, Nerin Bahceciler Onder, Ilke Beyitler, Salih Kavukcu, Pinar Tulay, Ozgur Tosun, Gulten Tuncel, Gamze Mocan, Hamdi Kale, Zehra Oya Uyguner, Aynur Acar, Mert Altinay, Levent Erdem, National Genetics Consortium Study. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium. Functional & integrative genomics. 2022 Jun;22(3):291-315
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PMID: 35098403
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