ArticleUrolithiasis2019
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.
Article in Urolithiasis, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review.Calcified tissue international · 2024Pooled it
- Three People With Recurrent Nephrolithiasis and HeterozygousKidney medicine · 2026Article
- Genetic contributors to osteoporosis in pregnancy and lactation associated osteoporosis (PLO).Bone · 2026Article
- Composite Phenotype: Recurrent Nephrolithiasis and Chronic Kidney Disease in an Adult with Biallelic <italic>SLC34A3</italic> and Monoallelic <italic>SLC3A1</italic> Pathogenic Variants - Who Is "The Culprit"?Kidney & blood pressure research · 2026Article
- Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Newly identified intronic and known pathogenic point mutations inGenes & diseases · 2025Article
- An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).Kidney international · 2024Article
- Article
- Genu Valgum, Fractures, and Renal Stones in a 10-year-old Girl.JCEM case reports · 2023Article
- Article
- Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.Kidney international reports · 2021Article
- Developmental Changes in Phosphate Homeostasis.Reviews of physiology, biochemistry and pharmacology · 2021Review
- Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.Molecular genetics & genomic medicine · 2020Article
- Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Loss-of-function mutations of SLC34A3 represent an established cause of a distinct renal phosphate wasting disorder termed hereditary hypophosphatemic rickets with hypercalciuria (HHRH). SLC34A3 encodes the renal phosphate transporter NaPi2c expressed at the apical brush border of proximal renal tubules. Substitution of p.Ser192Leu is one of the most frequent genetic changes among HHRH patients in Europe, but has never been systematically evaluated, clinically or on a cellular level. Identification of a 32-year-old female with a homozgyous c.575C>T, p.Ser192Leu substitution enabled a more comprehensive assessment of the impact of this missense variant. Clinically, the patient showed renal phosphate wasting and nephrocalcinosis without any bone abnormalities. Heterozygous carriers of deleterious SLC34A3 variants were previously described to harbor an increased risk of kidney stone formation and renal calcification. We hence examined the frequency of p.Ser192Leu variants in our adult kidney stone cohort and compared the results to clinical findings of previously published cases of both mono- and biallelic p.Ser192Leu changes. On a cellular level, p.Ser192Leu-mutated transporters localize to the plasma membrane in different cellular systems, but lead to significantly reduced transport activity of inorganic phosphate upon overexpression in Xenopus oocytes. Despite the reduced function in ectopic cellular systems, the clinical consequences of p.Ser192Leu may appear relatively mild, at least in our index patient, and can potentially be missed in clinical practice.
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