ArticleAmerican journal of human genetics1996
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
Article in American journal of human genetics, 1996. 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.
- From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.Diagnostics (Basel, Switzerland) · 2026Article
- A no-nonsense approach to hereditary kidney disease.Pediatric nephrology (Berlin, Germany) · 2020Review
- Exome sequencing of Saudi Arabian patients with ADPKD.Renal failure · 2019Article
- Population data improves variant interpretation in autosomal dominant polycystic kidney disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- 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
- Smelling the roses and seeing the light: gene therapy for ciliopathies.Trends in biotechnology · 2013Review
- High Resolution Melt analysis for mutation screening in PKD1 and PKD2.BMC nephrology · 2011Article
- 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
- PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.BMC medical genetics · 2006Article
- Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.American journal of human genetics · 2001Article
- 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
- Mutation detection in the repeated part of the PKD1 gene.American journal of human genetics · 1997Article
- Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice.The Journal of clinical investigation · 1997Article
- Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.American journal of human genetics · 1997Article
- A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).American journal of human genetics · 1997Article
- A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.Journal of medical genetics · 1997Article
- Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2.Proceedings of the National Academy of Sciences of the United States of America · 1997Article
- Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.American journal of human genetics · 1997Article
- The mouse homolog of PKD1: sequence analysis and alternative splicing.Mammalian genome : official journal of the International Mammalian Genome Society · 1997Article
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7 authors.
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Abstract
Recently, the gene for the most common form of autosomal dominant polycystic kidney disease (ADPKD), PKD1 (polycystic kidney disease 1), has been fully characterized and shown to encode an integral membrane protein, polycystin, involved in cell-cell and/or cell-matrix interactions. Study of the PKD1 gene has been complicated because most of the gene lies in a genomic region reiterated several times elsewhere on the same chromosome, and consequently only seven mutations have been described so far. Here we report a systematic screen covering approximately 80% of the approximately 2.75 kb of translated transcript that is encoded by single-copy DNA. We have identified and characterized six novel mutations that, together with the previously described changes, amount to a detection rate of 10%-15% in the population studied. The newly described mutations are two deletions, an insertion of a T-nucleotide causing a frame shift, two single-base-pair substitutions resulting in premature stop codons, and a G-->C transversion that may be a missense mutation. These results have important implications for genetic diagnosis of PKD1 because they indicate that the majority of mutations lie within the duplicated area, which is difficult to study. The regions of polycystin removed in each mutation so far described are assessed for their functional significance; an area disrupted by two new small in-frame changes is highlighted. PKD1 mutations are contrasted with those in the PKD1/TSC2 contiguous-gene syndrome, and the likely mutational mechanism in PKD1 is considered.
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