Cüneyd Yavaş1,2, Cemal Ün3, Evrim Çelebi2, Alper Gezdirici2, Mustafa Doğan2, Ezgi Gökpinar İli2, Tunay Doğan2, Nehir Özdemir Özgentürk4. 1. Yildiz Technical University, Graduate School of Natural and Applied Sciences, Department of Molecular Biology and Genetics - Istanbul, Turkey. 2. Başaksehir Çam and Sakura City Hospital, Department of Medical Genetics - Istanbul, Turkey. 3. Ege University, Faculty of Science, Department of Biology Molecular Biology Section - Bornova (İzmir), Turkey. 4. Yildiz Technical University, Faculty of Arts and Sciences, Department of Molecular Biology and Genetics - Istanbul, Turkey.
Abstract
OBJECTIVE: Chronic kidney disease (CKD) remains one of the major common health problems, and the number of people affected by the disease is progressively increasing in Turkey and worldwide. This study aimed to investigate molecular defects in Alport syndrome (AS) and other genes in patients with clinically suspected CKD using whole-exome sequencing (WES). METHODS: Patients with clinical suspicion of CKD were included in the study. Molecular genetic analyses were performed on genomic DNA by using WES. RESULTS: A total of 15 with 5 different pathogenic or likely pathogenic variants were identified in CKD patients, with a diagnostic rate of 30%. Eight variants of uncertain significance were also detected. In this study, 10 variants were described for the first time. As a result, we detected variants associated with CKD in our study population and found AS as the most common CKD after other related kidney diseases. CONCLUSIONS: Our results suggest that in heterogeneous diseases such as CKD, WES analysis enables accurate identification of underlying molecular defects promptly. Although CKD accounts for 10-14% of all renal dysfunction, molecular genetic diagnosis is necessary for optimal long-term treatment, prognosis, and effective genetic counseling. .
OBJECTIVE: Chronic kidney disease (CKD) remains one of the major common health problems, and the number of people affected by the disease is progressively increasing in Turkey and worldwide. This study aimed to investigate molecular defects in Alport syndrome (AS) and other genes in patients with clinically suspected CKD using whole-exome sequencing (WES). METHODS: Patients with clinical suspicion of CKD were included in the study. Molecular genetic analyses were performed on genomic DNA by using WES. RESULTS: A total of 15 with 5 different pathogenic or likely pathogenic variants were identified in CKD patients, with a diagnostic rate of 30%. Eight variants of uncertain significance were also detected. In this study, 10 variants were described for the first time. As a result, we detected variants associated with CKD in our study population and found AS as the most common CKD after other related kidney diseases. CONCLUSIONS: Our results suggest that in heterogeneous diseases such as CKD, WES analysis enables accurate identification of underlying molecular defects promptly. Although CKD accounts for 10-14% of all renal dysfunction, molecular genetic diagnosis is necessary for optimal long-term treatment, prognosis, and effective genetic counseling. .
Authors: Jula K Inrig; Robert M Califf; Asba Tasneem; Radha K Vegunta; Christopher Molina; John W Stanifer; Karen Chiswell; Uptal D Patel Journal: Am J Kidney Dis Date: 2013-12-06 Impact factor: 8.860
Authors: Jason L Vassy; Kurt D Christensen; Erica F Schonman; Carrie L Blout; Jill O Robinson; Joel B Krier; Pamela M Diamond; Matthew Lebo; Kalotina Machini; Danielle R Azzariti; Dmitry Dukhovny; David W Bates; Calum A MacRae; Michael F Murray; Heidi L Rehm; Amy L McGuire; Robert C Green Journal: Ann Intern Med Date: 2017-06-27 Impact factor: 25.391
Authors: Matthias Wuttke; Yong Li; Man Li; Karsten B Sieber; Mary F Feitosa; Mathias Gorski; Adrienne Tin; Lihua Wang; Audrey Y Chu; Anselm Hoppmann; Holger Kirsten; Ayush Giri; Jin-Fang Chai; Gardar Sveinbjornsson; Bamidele O Tayo; Teresa Nutile; Christian Fuchsberger; Jonathan Marten; Massimiliano Cocca; Sahar Ghasemi; Yizhe Xu; Katrin Horn; Damia Noce; Peter J van der Most; Sanaz Sedaghat; Zhi Yu; Masato Akiyama; Saima Afaq; Tarunveer S Ahluwalia; Peter Almgren; Najaf Amin; Johan Ärnlöv; Stephan J L Bakker; Nisha Bansal; Daniela Baptista; Sven Bergmann; Mary L Biggs; Ginevra Biino; Michael Boehnke; Eric Boerwinkle; Mathilde Boissel; Erwin P Bottinger; Thibaud S Boutin; Hermann Brenner; Marco Brumat; Ralph Burkhardt; Adam S Butterworth; Eric Campana; Archie Campbell; Harry Campbell; Mickaël Canouil; Robert J Carroll; Eulalia Catamo; John C Chambers; Miao-Ling Chee; Miao-Li Chee; Xu Chen; Ching-Yu Cheng; Yurong Cheng; Kaare Christensen; Renata Cifkova; Marina Ciullo; Maria Pina Concas; James P Cook; Josef Coresh; Tanguy Corre; Cinzia Felicita Sala; Daniele Cusi; John Danesh; E Warwick Daw; Martin H de Borst; Alessandro De Grandi; Renée de Mutsert; Aiko P J de Vries; Frauke Degenhardt; Graciela Delgado; Ayse Demirkan; Emanuele Di Angelantonio; Katalin Dittrich; Jasmin Divers; Rajkumar Dorajoo; Kai-Uwe Eckardt; Georg Ehret; Paul Elliott; Karlhans Endlich; Michele K Evans; Janine F Felix; Valencia Hui Xian Foo; Oscar H Franco; Andre Franke; Barry I Freedman; Sandra Freitag-Wolf; Yechiel Friedlander; Philippe Froguel; Ron T Gansevoort; He Gao; Paolo Gasparini; J Michael Gaziano; Vilmantas Giedraitis; Christian Gieger; Giorgia Girotto; Franco Giulianini; Martin Gögele; Scott D Gordon; Daniel F Gudbjartsson; Vilmundur Gudnason; Toomas Haller; Pavel Hamet; Tamara B Harris; Catharina A Hartman; Caroline Hayward; Jacklyn N Hellwege; Chew-Kiat Heng; Andrew A Hicks; Edith Hofer; Wei Huang; Nina Hutri-Kähönen; Shih-Jen Hwang; M Arfan Ikram; Olafur S Indridason; Erik Ingelsson; Marcus Ising; Vincent W V Jaddoe; Johanna Jakobsdottir; Jost B Jonas; Peter K Joshi; Navya Shilpa Josyula; Bettina Jung; Mika Kähönen; Yoichiro Kamatani; Candace M Kammerer; Masahiro Kanai; Mika Kastarinen; Shona M Kerr; Chiea-Chuen Khor; Wieland Kiess; Marcus E Kleber; Wolfgang Koenig; Jaspal S Kooner; Antje Körner; Peter Kovacs; Aldi T Kraja; Alena Krajcoviechova; Holly Kramer; Bernhard K Krämer; Florian Kronenberg; Michiaki Kubo; Brigitte Kühnel; Mikko Kuokkanen; Johanna Kuusisto; Martina La Bianca; Markku Laakso; Leslie A Lange; Carl D Langefeld; Jeannette Jen-Mai Lee; Benjamin Lehne; Terho Lehtimäki; Wolfgang Lieb; Su-Chi Lim; Lars Lind; Cecilia M Lindgren; Jun Liu; Jianjun Liu; Markus Loeffler; Ruth J F Loos; Susanne Lucae; Mary Ann Lukas; Leo-Pekka Lyytikäinen; Reedik Mägi; Patrik K E Magnusson; Anubha Mahajan; Nicholas G Martin; Jade Martins; Winfried März; Deborah Mascalzoni; Koichi Matsuda; Christa Meisinger; Thomas Meitinger; Olle Melander; Andres Metspalu; Evgenia K Mikaelsdottir; Yuri Milaneschi; Kozeta Miliku; Pashupati P Mishra; Karen L Mohlke; Nina Mononen; Grant W Montgomery; Dennis O Mook-Kanamori; Josyf C Mychaleckyj; Girish N Nadkarni; Mike A Nalls; Matthias Nauck; Kjell Nikus; Boting Ning; Ilja M Nolte; Raymond Noordam; Jeffrey O'Connell; Michelle L O'Donoghue; Isleifur Olafsson; Albertine J Oldehinkel; Marju Orho-Melander; Willem H Ouwehand; Sandosh Padmanabhan; Nicholette D Palmer; Runolfur Palsson; Brenda W J H Penninx; Thomas Perls; Markus Perola; Mario Pirastu; Nicola Pirastu; Giorgio Pistis; Anna I Podgornaia; Ozren Polasek; Belen Ponte; David J Porteous; Tanja Poulain; Peter P Pramstaller; Michael H Preuss; Bram P Prins; Michael A Province; Ton J Rabelink; Laura M Raffield; Olli T Raitakari; Dermot F Reilly; Rainer Rettig; Myriam Rheinberger; Kenneth M Rice; Paul M Ridker; Fernando Rivadeneira; Federica Rizzi; David J Roberts; Antonietta Robino; Peter Rossing; Igor Rudan; Rico Rueedi; Daniela Ruggiero; Kathleen A Ryan; Yasaman Saba; Charumathi Sabanayagam; Veikko Salomaa; Erika Salvi; Kai-Uwe Saum; Helena Schmidt; Reinhold Schmidt; Ben Schöttker; Christina-Alexandra Schulz; Nicole Schupf; Christian M Shaffer; Yuan Shi; Albert V Smith; Blair H Smith; Nicole Soranzo; Cassandra N Spracklen; Konstantin Strauch; Heather M Stringham; Michael Stumvoll; Per O Svensson; Silke Szymczak; E-Shyong Tai; Salman M Tajuddin; Nicholas Y Q Tan; Kent D Taylor; Andrej Teren; Yih-Chung Tham; Joachim Thiery; Chris H L Thio; Hauke Thomsen; Gudmar Thorleifsson; Daniela Toniolo; Anke Tönjes; Johanne Tremblay; Ioanna Tzoulaki; André G Uitterlinden; Simona Vaccargiu; Rob M van Dam; Pim van der Harst; Cornelia M van Duijn; Digna R Velez Edward; Niek Verweij; Suzanne Vogelezang; Uwe Völker; Peter Vollenweider; Gerard Waeber; Melanie Waldenberger; Lars Wallentin; Ya Xing Wang; Chaolong Wang; Dawn M Waterworth; Wen Bin Wei; Harvey White; John B Whitfield; Sarah H Wild; James F Wilson; Mary K Wojczynski; Charlene Wong; Tien-Yin Wong; Liang Xu; Qiong Yang; Masayuki Yasuda; Laura M Yerges-Armstrong; Weihua Zhang; Alan B Zonderman; Jerome I Rotter; Murielle Bochud; Bruce M Psaty; Veronique Vitart; James G Wilson; Abbas Dehghan; Afshin Parsa; Daniel I Chasman; Kevin Ho; Andrew P Morris; Olivier Devuyst; Shreeram Akilesh; Sarah A Pendergrass; Xueling Sim; Carsten A Böger; Yukinori Okada; Todd L Edwards; Harold Snieder; Kari Stefansson; Adriana M Hung; Iris M Heid; Markus Scholz; Alexander Teumer; Anna Köttgen; Cristian Pattaro Journal: Nat Genet Date: 2019-05-31 Impact factor: 38.330
Authors: Emily E Groopman; Maddalena Marasa; Sophia Cameron-Christie; Slavé Petrovski; Vimla S Aggarwal; Hila Milo-Rasouly; Yifu Li; Junying Zhang; Jordan Nestor; Priya Krithivasan; Wan Yee Lam; Adele Mitrotti; Stacy Piva; Byum H Kil; Debanjana Chatterjee; Rachel Reingold; Drew Bradbury; Michael DiVecchia; Holly Snyder; Xueru Mu; Karla Mehl; Olivia Balderes; David A Fasel; Chunhua Weng; Jai Radhakrishnan; Pietro Canetta; Gerald B Appel; Andrew S Bomback; Wooin Ahn; Natalie S Uy; Shumyle Alam; David J Cohen; Russell J Crew; Geoffrey K Dube; Maya K Rao; Sitharthan Kamalakaran; Brett Copeland; Zhong Ren; Joshua Bridgers; Colin D Malone; Caroline M Mebane; Neha Dagaonkar; Bengt C Fellström; Carolina Haefliger; Sumit Mohan; Simone Sanna-Cherchi; Krzysztof Kiryluk; Jan Fleckner; Ruth March; Adam Platt; David B Goldstein; Ali G Gharavi Journal: N Engl J Med Date: 2018-12-26 Impact factor: 176.079