Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome

• Autor(a) principal: Yavaş,Cüneyd
• Data de Publicação: 2022
• Outros Autores: Ün,Cemal, Çelebi,Evrim, Gezdirici,Alper, Doğan,Mustafa, İli,Ezgi Gökpinar, Doğan,Tunay, Özgentürk,Nehir Özdemir
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Revista da Associação Médica Brasileira (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302022000901282
• topic: Chronic kidney disease; Alport syndrome; Variant; Whole-exome sequencing

SUMMARY 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.