PDF(Pubmed)
Abstract：
UNASSIGNED: 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%.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■Alport综合征（AS）是一种遗传性，罕见,影响眼睛和耳朵生理的进行性肾脏疾病。COL4A5的致病变异占所有病例的85%，而COL4A3和COL4A4占剩下的15%。
■在125名土耳其AS患者中对COL4A3、COL4A4和COL4A5基因进行靶向下一代测序。将患者与45个对照和开放获取的人群数据进行比较。
■患者AS变异的发生率为21.6%。27种变体被鉴定为致病性/可能致病性，28作为不确定意义的变体，52为良性/可能为良性。我们还发现了31种新的变体（COL4A3中14种，COL4A4中6种，COL4A5中11种），其中27种被归类为致病性/可能致病性。致病性/可能致病性变异最常见于COL4A5基因，与文献一致。这项研究为文献贡献了与AS相关的新变体。
■基因检测是AS诊断和管理的关键部分。土耳其人群对AS遗传病因的研究有限。我们相信这项研究将有助于文献和AS患者的临床决策过程，并强调遗传咨询的重要性。
■在125名土耳其AS患者中对COL4A3、COL4A4和COL4A5基因进行靶向下一代测序。将患者与45个对照和开放获取的人群数据进行比较。
■患者AS变异的发生率为21.6%。27种变体被鉴定为致病性/可能致病性，28作为不确定意义的变体，52为良性/可能为良性。我们还发现了31种新的变体（COL4A3中14种，COL4A4中6种，COL4A5中11种），其中27种被归类为致病性/可能致病性。致病性/可能致病性变异最常见于COL4A5基因，与文献一致。这项研究为文献贡献了与AS相关的新变体。
■基因检测是AS诊断和管理的关键部分。土耳其人群对AS遗传病因的研究有限。我们相信这项研究将有助于文献和AS患者的临床决策过程，并强调遗传咨询的重要性。
