ArticleScientific reports2016
System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.Journal of human genetics · 2019Trial
- Genetic analysis of autosomal dominant polycystic kidney disease in Iranian families: a combined Sanger and next-generation sequencing study.Journal of applied genetics · 2026Article
- Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.BMC nephrology · 2025Article
- The diagnostic accuracy of ultrasound and genomic tests for the diagnosis of autosomal-dominant polycystic kidney disease: a systematic mapping review.Clinical kidney journal · 2025Article
- Utility of Genetic Testing in Adults with CKD: A Systematic Review and Meta-Analysis.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Article
- Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.Scientific reports · 2019Article
- Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.Molecular genetics & genomic medicine · 2019Article
- Clinical Features of 167 Inpatients with Autosomal Dominant Polycystic Kidney Disease at a Single Center in China.Medical science monitor : international medical journal of experimental and clinical research · 2018Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder mainly caused by mutation in PKD1/PKD2. However, ethnic differences in mutations, the association between mutation genotype/clinical phenotype, and the clinical applicable value of mutation detection are poorly understood. We made systematically analysis of Chinese ADPKD patients based on a next-generation sequencing platform. Among 148 ADPKD patients enrolled, 108 mutations were detected in 127 patients (85.8%). Compared with mutations in Caucasian published previously, the PKD2 mutation detection rate was lower, and patients carrying the PKD2 mutation invariably carried the PKD1 mutation. The definite pathogenic mutation detection rate was lower, whereas the multiple mutations detection rate was higher in Chinese patients. Then, we correlated PKD1/PKD2 mutation data and clinical data: patients with mutation exhibited a more severe phenotype; patients with >1 mutations exhibited a more severe phenotype; patients with pathogenic mutations exhibited a more severe phenotype. Thus, the PKD1/PKD2 mutation status differed by ethnicity, and the PKD1/PKD2 genotype may affect the clinical phenotype of ADPKD. Furthermore, it makes sense to detect PKD1/PKD2 mutation status for early diagnosis and prognosis, perhaps as early as the embryo/zygote stage, to facilitate early clinical intervention and family planning.
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