ArticleHuman genetics2019
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 3 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 3 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- Genetic Polymorphisms and Kidney Stones Around the Globe: A Systematic Review and Meta-Analysis.Frontiers in genetics · 2022Pooled it
- Association of vitamin D receptor gene polymorphisms and risk of urolithiasis: results of a genetic epidemiology study and comprehensive meta-analysis.Urolithiasis · 2020Pooled it
- Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study.BMC medical genetics · 2020Pooled it
- Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Current opinion in urology · 2026Review
- Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.The Journal of clinical investigation · 2026Observational
- From Heterogeneity to Precision in Urinary Stone Disease: Who to Test, When, and with What.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.Kidney international reports · 2025Article
- Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis.Pediatric nephrology (Berlin, Germany) · 2025Article
- Characteristics and Yield of Modern Approaches for the Diagnosis of Genetic Causes of Kidney Stone Disease.Genes · 2024Review
- Influence of Dietary Heritage in a Restricted Geographic Area and Role of Food Additives on Risk of Recurrent Kidney Stone.Nutrients · 2024Article
- Prevalence and characteristics of genetic disease in adult kidney stone formers.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2024Article
- Genetic susceptibility of urolithiasis: comprehensive results from genome-wide analysis.World journal of urology · 2024Article
- Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.Pediatric nephrology (Berlin, Germany) · 2023Article
- Shockwaves and the Rolling Stones: An Overview of Pediatric Stone Disease.Kidney international reports · 2023Review
- Metabolic and Genetic Evaluation in Children with Nephrolithiasis.Indian journal of pediatrics · 2022Article
- Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.Pediatric nephrology (Berlin, Germany) · 2022Article
- Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.Molecular genetics and genomics : MGG · 2022Article
- Perception of Dietary Influences on Renal Stone Formation Among the General Population.Cureus · 2022Article
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Authors and funding
18 authors at 8 institutions in 6 countries.
Funding
Abstract
Nephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes significant patient morbidity. We previously demonstrated a genetic cause of NL can be identified in 11-29% of pre-dominantly American and European stone formers. Pakistan, which resides within the Afro-Asian stone belt, has a high prevalence of nephrolithiasis (12%) as well as high rate of consanguinity (> 50%). We recruited 235 Pakistani subjects hospitalized for nephrolithiasis from five tertiary hospitals in the Punjab province of Pakistan. Subjects were surveyed for age of onset, NL recurrence, and family history. We conducted high-throughput exon sequencing of 30 NL disease genes and variant analysis to identify monogenic causative mutations in each subject. We detected likely causative mutations in 4 of 30 disease genes, yielding a likely molecular diagnosis in 7% (17 of 235) of NL families. Only 1 of 17 causative mutations was identified in an autosomal recessive disease gene. 10 of the 12 detected mutations were novel mutations (83%). SLC34A1 was most frequently mutated (12 of 17 solved families). We observed a higher frequency of causative mutations in subjects with a positive NL family history (13/109, 12%) versus those with a negative family history (4/120, 3%). Five missense SLC34A1 variants identified through genetic analysis demonstrated defective phosphate transport. We examined the monogenic causes of NL in a novel geographic cohort and most frequently identified dominant mutations in the sodium-phosphate transporter SLC34A1 with functional validation.
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