ArticleAmerican journal of human genetics1997
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 106 citations in OpenAlex.
- Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.NPJ genomic medicine · 2023Article
- Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease.BMC nephrology · 2020Article
- Population data improves variant interpretation in autosomal dominant polycystic kidney disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Recent advances in the clinical management of autosomal dominant polycystic kidney disease.F1000Research · 2019Review
- A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report.BMC medical genetics · 2018Article
- Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.Pflugers Archiv : European journal of physiology · 2014Article
- High Resolution Melt analysis for mutation screening in PKD1 and PKD2.BMC nephrology · 2011Article
- A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs.PloS one · 2011Article
- An ELISA-based high throughput protein truncation test for inherited breast cancer.Breast cancer research : BCR · 2010Article
- New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.BMC medical genetics · 2009Article
- Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.Kidney international · 2009Article
- Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.Clinical journal of the American Society of Nephrology : CJASN · 2009Article
- Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.Kidney international · 2008Article
- PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.BMC medical genetics · 2006Article
- Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.Journal of molecular medicine (Berlin, Germany) · 2005Article
- Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).BMC medical genetics · 2004Article
- Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.American journal of human genetics · 2001Article
- Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.American journal of human genetics · 2001Article
- Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.American journal of human genetics · 1999Article
- Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.American journal of human genetics · 1999Article
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
Abstract
Mutation screening of the major autosomal dominant polycystic kidney disease gene (PKD1) has been complicated by the large transcript size (> 14 kb) and by reiteration of the genomic area encoding 75% of the protein on the same chromosome (the HG loci). The sequence similarity between the PKD1 and HG regions has precluded specific analysis of the duplicated region of PKD1, and consequently all previously described mutations map to the unique 3' region of PKD1. We have now developed a novel anchored reverse-transcription-PCR (RT-PCR) approach to specifically amplify duplicated regions of PKD1, employing one primer situated within the single-copy region and one within the reiterated area. This strategy has been incorporated in a mutation screen of 100 patients for more than half of the PKD1 exons (exons 22-46; 37% of the coding region), including 11 (exons 22-32) within the duplicated gene region, by use of the protein-truncation test (PTT). Sixty of these patients also were screened for missense changes, by use of the nonisotopic RNase cleavage assay (NIRCA), in exons 23-36. Eleven mutations have been identified, six within the duplicated region, and these consist of three stop mutations, three frameshifting deletions of a single nucleotide, two splicing defects, and three possible missense changes. Each mutation was detected in just one family (although one has been described elsewhere); no mutation hot spot was identified. The nature and distribution of mutations, plus the lack of a clear phenotype/genotype correlation, suggest that they may inactivate the molecule. RT-PCR/PTT proved to be a rapid and efficient method to detect PKD1 mutations (differentiating pathogenic changes from polymorphisms), and we recommend this procedure as a firstpass mutation screen in this disorder.
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