ArticleEuropean journal of human genetics : EJHG2013
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
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 35 papers.
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Who cites it
35 citing papers in PubMed, 81 citations in OpenAlex.
- Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria.Journal of clinical medicine · 2026Review
- Hyperoxaluria: Diagnosis and Treatment.The Urologic clinics of North America · 2025Review
- Primary hyperoxaluria type 3: from infancy to adulthood in a genetically unique cohort.Pediatric nephrology (Berlin, Germany) · 2025Article
- Characteristics and Yield of Modern Approaches for the Diagnosis of Genetic Causes of Kidney Stone Disease.Genes · 2024Review
- Navigating the Evolving Landscape of Primary Hyperoxaluria: Traditional Management Defied by the Rise of Novel Molecular Drugs.Biomolecules · 2024Review
- HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships.World journal of urology · 2023Article
- Proposal for pathogenesis-based treatment options to reduce calcium oxalate stone recurrence.Asian journal of urology · 2023Review
- Characterization of Stone Events in Patients With Type 3 Primary Hyperoxaluria.The Journal of urology · 2023Article
- Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.Journal of human genetics · 2023Article
- Primary hyperoxaluria: the pediatric nephrologist's point of view.Clinical kidney journal · 2022Review
- Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- The genetics of kidney stone disease and nephrocalcinosis.Nature reviews. Nephrology · 2022Review
- Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease.Journal of nephrology · 2022Article
- Article
- Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.BMC medical genomics · 2021Article
- Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants.Molecular biology reports · 2021Review
- Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Article
- Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children.Pediatric nephrology (Berlin, Germany) · 2019Observational
- Incorporation of osteopontin peptide into kidney stone-related calcium oxalate monohydrate crystals: a quantitative study.Urolithiasis · 2019Article
- Molecular basis of primary hyperoxaluria: clues to innovative treatments.Urolithiasis · 2019Review
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Authors and funding
20 authors at 13 institutions in 6 countries.
Funding
Abstract
Identification of mutations in the HOGA1 gene as the cause of autosomal recessive primary hyperoxaluria (PH) type III has revitalized research in the field of PH and related stone disease. In contrast to the well-characterized entities of PH type I and type II, the pathophysiology and prevalence of type III is largely unknown. In this study, we analyzed a large cohort of subjects previously tested negative for type I/II by complete HOGA1 sequencing. Seven distinct mutations, among them four novel, were found in 15 patients. In patients of non-consanguineous European descent the previously reported c.700+5G>T splice-site mutation was predominant and represents a potential founder mutation, while in consanguineous families private homozygous mutations were identified throughout the gene. Furthermore, we identified a family where a homozygous mutation in HOGA1 (p.P190L) segregated in two siblings with an additional AGXT mutation (p.D201E). The two girls exhibiting triallelic inheritance presented a more severe phenotype than their only mildly affected p.P190L homozygous father. In silico analysis of five mutations reveals that HOGA1 deficiency is causing type III, yet reduced HOGA1 expression or aberrant subcellular protein targeting is unlikely to be the responsible pathomechanism. Our results strongly suggest HOGA1 as a major cause of PH, indicate a greater genetic heterogeneity of hyperoxaluria, and point to a favorable outcome of type III in the context of PH despite incomplete or absent biochemical remission. Multiallelic inheritance could have implications for genetic testing strategies and might represent an unrecognized mechanism for phenotype variability in PH.
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