A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

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dc.authoridBender, Onur/0000-0003-0691-3508
dc.authoridOZDEMIR OZGENTURK, NEHIR/0000-0003-3809-6303
dc.authoridKESKIN, ECE/0000-0003-0019-3482
dc.authorwosidBender, Onur/D-5917-2018
dc.authorwosidGezdirici, Alper/W-8459-2018
dc.authorwosidOZDEMIR OZGENTURK, NEHIR/HKW-0294-2023
dc.authorwosidYavaş, Cüneyd/JLK-8579-2023
dc.contributor.authorYavas, Cueneyd
dc.contributor.authorOzgenturk, Nehir Ozdemir
dc.contributor.authorDogan, Mustafa
dc.contributor.authorGezdirici, Alper
dc.contributor.authorKeskin, Ece
dc.contributor.authorIli, Ezgi Gokpinar
dc.contributor.authorDogan, Tunay
dc.date.accessioned2024-05-19T14:46:00Z
dc.date.available2024-05-19T14:46:00Z
dc.date.issued2023
dc.departmentİstinye Üniversitesien_US
dc.description.abstractIntroduction: Alport syndrome (AS) is an inherited, rare, progressive kidney disease that affects the eye and ear physiology. Pathogenic variants of COL4A5 account for 85% of all cases, while COL4A3 and COL4A4 account for the remaining 15%. Methods: Targeted next-generation sequencing of the COL4A3, COL4A4, and COL4A5 genes was performed in 125 Turkish patients with AS. The patients were compared to 45 controls and open-access population data. Results: The incidence of AS variants in patients was found as 21.6%. 27 variants were identified as pathogenic/likely pathogenic, 28 as variant of uncertain significance, and 52 as benign/likely benign. We also found 31 novel variants (14 in COL4A3, 6 in COL4A4, and 11 in COL4A5) of which 27 were classified as pathogenic/likely pathogenic. Pathogenic/likely Pathogenic variants were most commonly found in the COL4A5 gene, consistent with the literature. This study contributed novel variants associated with AS to the literature. Conclusion: Genetic testing is a crucial part for the diagnosis and management of AS. Studies on the genetic etiology of AS are limited for the Turkish population. We believe that this study will contribute to the literature and the clinical decision-making process of patients with AS and emphasize the importance of genetic counseling.(c) 2023en_US
dc.identifier.doi10.1159/000533915
dc.identifier.endpage13en_US
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue1en_US
dc.identifier.pmid38357258en_US
dc.identifier.scopus2-s2.0-85175850706en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage1en_US
dc.identifier.urihttps://doi.org10.1159/000533915
dc.identifier.urihttps://hdl.handle.net/20.500.12713/5417
dc.identifier.volume15en_US
dc.identifier.wosWOS:001095960400001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240519_kaen_US
dc.subjectNext-Generation Sequencingen_US
dc.subjectAlport Syndromeen_US
dc.subjectKidney Diseaseen_US
dc.subjectNovel Variantsen_US
dc.subjectGenomeen_US
dc.titleA Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndromeen_US
dc.typeArticleen_US

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