ArticleHuman genetics2003
De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease.
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 41 citations in OpenAlex.
- Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex.Frontiers in cell and developmental biology · 2024Article
- Tail Wags Dog's SINE: Retropositional Mechanisms of Can SINE Depend on Its A-Tail Structure.Biology · 2022Article
- The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology.Genome research · 2017Article
- Proteinuria in Dent disease: a review of the literature.Pediatric nephrology (Berlin, Germany) · 2017Review
- Roles for retrotransposon insertions in human disease.Mobile DNA · 2016Review
- DNA hypomethylation within specific transposable element families associates with tissue-specific enhancer landscape.Nature genetics · 2013Article
- Novel Alu retrotransposon insertion leading to Alström syndrome.Human genetics · 2012Article
- Alu mobile elements: from junk DNA to genomic gems.Scientifica · 2012Review
- Dent's disease: clinical features and molecular basis.Pediatric nephrology (Berlin, Germany) · 2011Article
- Role of kidney chloride channels in health and disease.Pediatric nephrology (Berlin, Germany) · 2007Review
- A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.Journal of human genetics · 2007Article
- Hypercalciuria in patients with CLCN5 mutations.Pediatric nephrology (Berlin, Germany) · 2006Article
- LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption.Journal of biomedicine & biotechnology · 2006Article
- Short interspersed elements (SINEs) are a major source of canine genomic diversity.Genome research · 2005Article
- A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.Human genetics · 2005Review
- Chloride and sodium renal tubular handling in Dent's disease.Pediatric nephrology (Berlin, Germany) · 2005Article
- The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.Journal of human genetics · 2005Article
- A large MSH2 Alu insertion mutation causes HNPCC in a German kindred.Human genetics · 2004Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dent's disease is an X-linked renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and eventual renal failure. Various types of mutations in the renal chloride channel gene, CLCN5, have been identified in patients with this disease. We studied a Spanish patient with Dent's disease and found, by polymerase chain reaction amplification of the CLCN5 exons, an abnormally large exon 11. Sequencing analysis revealed that this was attributable to the insertion in codon 650 of an Alu element of the "young" Ya5 subfamily. The Alu element was inserted with the same orientation as the CLCN5 gene and arose de novo on the maternal chromosome. Polymorphism analysis indicated that the insertion occurred in the germline of the maternal grandfather. The presence of a long poly(A) tract and evidence for a 16-bp target-site duplication implied that the Alu element was integrated by retrotransposition. This mutation predicts a truncated ClC-5 protein that lacks part of the carboxy-terminus and is likely to result in loss of function of the chloride channel. Insertions of Alu sequences, which are rarely found in coding regions, have occasionally been reported to cause other genetic diseases. However, this is the first report of a retrotransposon insertion in the CLCN5 gene associated with Dent's disease.
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