ArticleEuropean journal of human genetics : EJHG2013
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 26 citations in OpenAlex.
- Severe growth retardation in Dent disease: a case report of a novel OCRL variant.CEN case reports · 2026Article
- Comprehensive Splice Pattern Analysis for Previously ReportedKidney international reports · 2025Article
- Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.Journal of inherited metabolic disease · 2025Review
- Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study.BMC medical genomics · 2024Article
- A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test.CEN case reports · 2022Article
- Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.Human genetics · 2021Review
- Dent disease: classification, heterogeneity and diagnosis.World journal of pediatrics : WJP · 2021Review
- Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome.Clinical and experimental nephrology · 2020Article
- Review
- Review
- Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.Journal of human genetics · 2018Article
- The endocytic receptor megalin and its associated proteins in proximal tubule epithelial cells.Membranes · 2014Article
- Complexity of the 5'UTR region of the CLCN5 gene: eleven 5'UTR ends are differentially expressed in the human kidney.BMC medical genomics · 2014Article
- Digenic inheritance in medical genetics.Journal of medical genetics · 2013Review
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
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10 authors at 4 institutions in 1 country.
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Abstract
Dent's disease is an X-linked renal tubulopathy caused by mutations mainly affecting the CLCN5 gene. Defects in the OCRL gene, which is usually mutated in patients with Lowe syndrome, have been shown to lead to a Dent-like phenotype called Dent disease 2. However, about 20% of patients with Dent's disease carry no CLCN5/OCRL mutations. The disease's genetic heterogeneity is accompanied by interfamilial and intrafamilial phenotypic heterogeneity. We report on a case of Dent's disease with a very unusual phenotype (dysmorphic features, ocular abnormalities, growth delay, rickets, mild mental retardation) in which a digenic inheritance was discovered. Two different, novel disease-causing mutations were detected, both inherited from the patient's healthy mother, that is a truncating mutation in the CLCN5 gene (A249fs*20) and a donor splice-site alteration in the OCRL gene (c.388+3A>G). The mRNA analysis of the patient's leukocytes revealed an aberrantly spliced OCRL mRNA caused by in-frame exon 6 skipping, leading to a shorter protein, but keeping intact the central inositol 5-phosphatase domain and the C-terminal side of the ASH-RhoGAP domain. Only wild-type mRNA was observed in the mother's leukocytes due to a completely skewed X inactivation. Our results are the first to reveal the effect of an epistatic second modifier in Dent's disease too, which can modulate its expressivity. We surmise that the severe Dent disease 2 phenotype of our patient might be due to an addictive interaction of the mutations at two different genes.
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