• Cüneyd Yavaş, Cemal Ün, Evrim Çelebi, Alper Gezdirici, Mustafa Doğan, Ezgi Gökpinar İli, Tunay Doğan, and Nehir Özdemir Özgentürk.
• Yildiz Technical University, Graduate School of Natural and Applied Sciences, Department of Molecular Biology and Genetics - Istanbul, Turkey.
• Rev Assoc Med Bras (1992). 2022 Sep 1; 68 (9): 128212871282-1287.

ObjectiveChronic 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).MethodsPatients with clinical suspicion of CKD were included in the study. Molecular genetic analyses were performed on genomic DNA by using WES.ResultsA 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.ConclusionsOur 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. .

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