SavedAdd your journal

Journals / Journal of Basic and Clinical Health Sciences / 2019 / Cilt: 3 - Sayı: 3

Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome

Altuğ KOÇ
Tayfun ÇİNLETİ
Ayfer ÜLGENALP
Özlem GİRAY BOZKAYA
Gizem YILDIZ
Elçin BORA
Meral TORUN BAYRAM
Pages
165–169
Publication Date
2022-10-19
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Clinical findings of our cases with novel genetic variants are presented as a contribution to literature.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Objectives: We have no series report concerning genetic etiology of Alport Syndrome (AS) in our country.
📊
Key Findings & Data:So, we aimed to investigate ASrelated 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 byNGS targeting the coding regions of related genes.
💡
Conclusion & Impact:Clinical findings of our cases with novel genetic variants are presented as a contribution to literature.
🔬Design:Research Article
📍Scope:2018-2019 Verileri
⚙️Variables:Domain Parameters

Abstract

Objectives: We have no series report concerning genetic etiology of Alport Syndrome (AS) in our country. So, we aimed to investigate ASrelated 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 byNGS 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 clinicalmanagement. In four cases, there are novel variants. In two cases, there are digenic variations. There is no clinically relevant variant in COL4A4gene. 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 justfor 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.

🔖

Cite This Article

KOÇ, A., ÇİNLETİ, T., ÜLGENALP, A., BOZKAYA, Ö. G., YILDIZ, G., BORA, E., BAYRAM, M. T. (2022). Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome. Journal of Basic and Clinical Health Sciences, Cilt: 3 - Sayı: 3, 165–169. https://ajindex.com/articles/560611

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (13)

  1. Kashtan CE. Alport Syndrome. GeneReviews®. University of Washington, Seattle
  2. pp.1993–2019. Available at: http://www.ncbi. nlm.nih.gov/books/NBK1207/ 2. Kashtan CE. Genetics, pathogenesis, and pathology of Alport syndrome (hereditary nephritis). Uptodate. 2018. Available at: https://www. uptodate.com/contents/genetics-pathogenesis-and-pathology-ofalport-syndrome-hereditary-nephritis?search=alport&source=sear ch_result&selectedTitle=2~40&usage_type=default&display_rank=2 3. Nozu K, Nakanishi K, Abe Y, et al. A review of clinical characteristics and genetic backgrounds in Alport Syndrome. Clin Exp Nephrol 2019
  3. 158–168. [CrossRef] 4. Yilmaz VT, Dinckan A, Yilmaz F, Suleymanlar G, Kocak H. Outcomes of Renal Transplantation in Patients With Alport Syndrome. Transplant Proc 2015
  4. 1377–1381. [CrossRef] 5. Kamiyoshi N, Nozu K, Fu XJ, et al. Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. Clin J Am Soc Nephrol 2016
  5. 1441–1449. [CrossRef] 6. Mencarelli MA, Heidet L, Storey H, et al. Evidence of digenic inheritance in Alport syndrome. J Med Genet 2015
  6. 163–174. [CrossRef] 7. Fallerini C, Baldassarri M, Trevisson E, et al. Alport syndrome: impact of digenic inheritance in patients management. Clin Genet 2017
  7. 34–44. [CrossRef] 8. Krol RP, Nozu K, Nakanishi K, et al. Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome. Nephrol Dial Transplant 2008
  8. 2525–2530. [CrossRef] https://doi.org/10.1093/ndt/gfn005 9. Adıyeke SK, Ture G, Mutlubaş F, et al. Increased Subfoveal Choroidal Thickness and Retinal Structure Changes on Optical Coherence Tomography in Pediatric Alport Syndrome Patients. J Ophthalmol 2019
  9. 1–7. [CrossRef] 10. Antignac C, Heidet L. Mutations in Alport Syndrome associated with diffuse esophageal leiomyomatosis. Contrib Nephrol 1996
  10. 172– 82. [CrossRef] 11. Gross O, Kashtan CE, Rheault MN, et al. Advances and unmet needs in genetic, basic and clinical science in AS: report from the 2015 International Workshop on AS. Nephrol Dial Transplant 2017
  11. 916– 924. [CrossRef] 12. Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of AS and thin basement membrane nephropathy. J Am Soc Nephrol 2013
  12. 364–375. [CrossRef] 13. Uzak AS, Tokgoz B, Dundar M, Tekin M. A Novel COL4A3 Mutation Causes Autosomal-Recessive AS in a Large Turkish Family. Genet Test Mol Biomarkers 2013
  13. 260–4. [CrossRef] 14. Richa