ArticleBMC medical genetics2011
Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.
Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 34 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
- 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
- Single-Base Substitution Causing Dual-Exon Skipping Event inJournal of clinical medicine · 2024Article
- Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease.Molecular genetics & genomic medicine · 2020Article
- Co-segregation of candidate polymorphism rs201204878 of theExperimental and therapeutic medicine · 2019Article
- Examining the Role of Polymorphisms in Exon 25 of theReports of biochemistry & molecular biology · 2019Article
- Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.Molecular genetics & genomic medicine · 2019Article
- Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease.Molecular medicine reports · 2019Article
- PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.Scientific reports · 2019Article
- Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2019Article
- Generation of special autosomal dominant polycystic kidney disease iPSCs with the capability of functional kidney-like cell differentiation.Stem cell research & therapy · 2017Article
- Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease.World journal of pediatrics : WJP · 2016Article
- System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.Scientific reports · 2016Article
- The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China.Kidney diseases (Basel, Switzerland) · 2016Review
- Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models.Scientific reports · 2016Article
- Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.Journal of the American Society of Nephrology : JASN · 2016Article
- Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.Scientific reports · 2015Article
- Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.BMC medical genetics · 2014Article
- Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.Iranian biomedical journal · 2014Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease with an incidence of 1 in 400 to 1000. The disease is genetically heterogeneous, with two genes identified: PKD1 (16p13.3) and PKD2 (4q21). Molecular diagnosis of the disease in at-risk individuals is complicated due to the structural complexity of PKD1 gene and the high diversity of the mutations. This study is the first systematic ADPKD mutation analysis of both PKD1 and PKD2 genes in Chinese patients using denaturing high-performance liquid chromatography (DHPLC).
methodsBoth PKD1 and PKD2 genes were mutation screened in each proband from 65 families using DHPLC followed by DNA sequencing. Novel variations found in the probands were checked in their family members available and 100 unrelated normal controls. Then the pathogenic potential of the variations of unknown significance was examined by evolutionary comparison, effects of amino acid substitutions on protein structure, and effects of splice site alterations using online mutation prediction resources.
resultsA total of 92 variations were identified, including 27 reported previously. Definitely pathogenic mutations (ten frameshift, ten nonsense, two splicing defects and one duplication) were identified in 28 families, and probably pathogenic mutations were found in an additional six families, giving a total detection level of 52.3% (34/65). About 69% (20/29) of the mutations are first reported with a recurrent mutation rate of 31%.
conclusionsMutation study of PKD1 and PKD2 genes in Chinese Hans with ADPKD may contribute to a better understanding of the genetic diversity between different ethnic groups and enrich the mutation database. Besides, evaluating the pathogenic potential of novel variations should also facilitate the clinical diagnosis and genetic counseling of the disease.
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