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通过分析具有肾脏多发囊肿的患者及其家属的基因检测资料，找出尚未报道的常染色体显性遗传多囊肾（ADPKD）新型基因突变位点。采用结构预测软件，研究突变前后蛋白结构变化，探索基因型与表型关联，丰富ADPKD基因数据库。本研究为单中心回顾性研究，纳入2019年1月至2023年2月于东南大学附属中大医院就诊的影像学检查示肾脏存在多发囊肿的患者，收集患者及其家属的基因及临床资料。应用AlphaFold v2.3.1软件预测蛋白结构，研究尚未报道的ADPKD新型基因突变前后蛋白结构变化。结果显示，52个家系检出12个可导致肾脏囊肿的突变基因，发现19个ADPKD新型基因突变位点，包含17个多囊蛋白1（PKD1）基因突变（1个剪接突变，7个移码突变，4个无义突变，1个整码突变，4个错义突变）；1个α-1，2-甘露糖基转移酶（ALG9）错义突变和1个染色体结构变异。PKD1基因的截短突变与更重的临床表型相关，而非截短突变则与更多的临床异质性相关。目前仍有大量ADPKD新型基因突变位点尚未报道，有必要分析新型突变位点致病性，建立基因型与表型关联，丰富ADPKD基因数据库。

By analyzing the of genetic testing data of patients with renal polycystic kidney disease and their relatives, this study aims to identify unreported novel gene mutation sites associated with autosomal dominant polycystic kidney disease (ADPKD). Structural prediction software was employed to investigate protein structural changes before and after mutations, explore genotype-phenotype correlations, and enrich the ADPKD gene database. In this single-center retrospective study, patients with multiple renal cysts diagnosed from January 2019 to February 2023 at the Zhong Da Hospital Southeast University were included. Genetic and clinical data of patients and their families were collected. Unreported novel gene mutation sites associated with ADPKD were identified. The AlphaFold v2.3.1 software was used to predict protein structures. Changes in protein structure before and after mutations were compared to explore genotype-phenotype correlations and enrich the ADPKD gene database. Twelve mutated genes associated with renal cysts were detected in 52 families. Nineteen novel gene mutation sites associated with ADPKD were identified, including 17 mutations in the PKD1 gene (one splicing mutation, seven frameshift mutations, four nonsense mutations, one whole-codon insertion, and four missense mutations); one ALG9 missense mutation; and one chromosomal structural variation. Truncating mutations in the PKD1 gene were correlated with a more severe clinical phenotype, while non-truncating mutations were associated with greater clinical heterogeneity. Numerous novel gene mutation sites associated with ADPKD remain unreported. Therefore, it is essential to analyze the pathogenicity of these novel mutation sites, establish genotype-phenotype correlations, and enrich the ADPKD gene database.