ArticlePediatric nephrology (Berlin, Germany)2015
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Article in Pediatric nephrology (Berlin, Germany), 2015. 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, 52 citations in OpenAlex.
- Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome.Molecular genetics & genomic medicine · 2019Trial
- Bleeding and hemostatic defects in Lowe syndrome: the role of OCRL in platelets.Frontiers in cell and developmental biology · 2026Review
- Comprehensive Splice Pattern Analysis for Previously ReportedKidney international reports · 2025Article
- Clinical variation in Lowe syndrome: what and how?Frontiers in cell and developmental biology · 2025Review
- Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.Current issues in molecular biology · 2024Article
- The implementation and utility of clinical exome sequencing in a South African infant cohort.Frontiers in genetics · 2023Article
- Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.Journal of medical genetics · 2022Article
- Article
- Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.Intractable & rare diseases research · 2020Article
- Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.Journal of human genetics · 2020Article
- Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome.Clinical and experimental nephrology · 2020Article
- Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.Human molecular genetics · 2020Article
- Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations.Journal of neurodevelopmental disorders · 2020Article
- RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.European journal of human genetics : EJHG · 2018Article
- Article
- Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.Molecular autism · 2018Article
- Nephrolithiasis and Nephrocalcinosis in Childhood-Risk Factor-Related Current and Future Treatment Options.Frontiers in pediatrics · 2018Review
- Article
- Dent disease in Poland: what we have learned so far?International urology and nephrology · 2017Article
Corrections and comments
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Authors and funding
24 authors at 18 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disorder, almost always characterized by the triad of congenital cataract, cognitive and behavioral impairment and a proximal tubulopathy.
methodsTwenty-eight novel patients with suspected Lowe syndrome were studied.
resultsAll patients carried OCRL gene defects with mutational hot spots at CpG dinucleotides. Mutations previously unknown in Lowe syndrome were observed in ten of the 28 patients, and carriership was identified in 30.4 % of the mothers investigated. Mapping the exact breakpoints of a complete OCRL gene deletion revealed involvement of several flanking repeat elements. We noted a similar pattern of documented clinically relevant symptoms, and even though the patient cohort comprised relatively young patients, 32 % of these patients already showed advanced chronic kidney disease. Thrombocytopenia was seen in several patients, and hyperosmia and/or hyperacusis were reported recurrently. A p.Asp523Asn mutation in a Polish patient, associated with the typical cerebrorenal spectrum but with late cataract (10 year), was also evident in two milder affected Italian brothers with ocular involvement of similar progression.
conclusionsWe have identified clinical features in 28 patients with suspected Lowe syndrome that had not been recognized in Lowe syndrome prior to our study. We also provide further evidence that OCRL mutations cause a phenotypic continuum with selective and/or time-dependent organ involvement. At least some of these mutants might exhibit a genotype-phenotype correlation.
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