We are honored to announce that Prof. Dr. Seza Özen who is the member of Honorary Advisory Board of JBACHS has already won the Aziz Sancar Science Award of TUSEB.
We are happy to announce that The Journal of Basic and Clinical Health Sciences (JBACHS) is indexed by the Emerging Sources Citation Index since November 2017, and indexed by the Ulakbim-TR since 2017.
Journal of Basic and Clinical Health Sciences 2019 , Vol 3 , Issue 3
Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome
Altuğ Koç1,Elçin Bora1,Tayfun Cinleti2,Gizem Yıldız3,Meral Torun Bayram3,Özlem Giray Bozkaya2,Ayfer Ulgenalp1
1Dokuz Eylul University, Faculty of Medicine, Medical Genetics, İzmir, Turkey
2Dokuz Eylul University, Faculty of Medicine, Branch of Pediatric Nephrology, Department of Pediatrics, İzmir, Turkey
3Dokuz Eylul University, Faculty of Medicine, Branch of Pediatric Genetics, Department of Pediatrics, İzmir, Turkey
DOI : 10.30621/jbachs.2019.719 Objectives: We have no series report concerning genetic etiology of Alport Syndrome (AS) in our country. So, we aimed to investigate AS related pathogenic variants of COL4A3, COL4A4 and COL4A5 genes in index cases and their families who referred to our center.

Patients and Methods: The study includes 32 subjects (17 index cases and their relatives) who are investigated between years 2018-2019 by NGS targeting the coding regions of related genes. The test results and clinical findings of the cases are studied retrospectively.

Results: By the presented study, 19 individuals identified to have COL4A3 and COL4A5 variations which could be important for the clinical management. In four cases, there are novel variants. In two cases, there are digenic variations. There is no clinically relevant variant in COL4A4 gene. The most frequent three mutations of COL4A5 gene reported in United States (US) are not determined in our study group.

Conclusion: The diagnostic genetic tests of AS should be designed to include whole coding regions of COL4A3 and COL4A5 genes, not just for the frequently reported pathogenic variants. The cases without pathogenic variants by sequencing should be investigated for deletions/ duplications of COL4A5 gene. Clinical findings of our cases with novel genetic variants are presented as a contribution to literature. Keywords : Alport syndrome, Hereditary Nephritis, COL4A3, COL4A4, COL4A5