ArticleScientific reports2016
Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05972408 (Evaluation of Prevalence, Molecular and Genetic Backgrounds of Calcium-Based Stones Among Patients With Renal Calcular Disease in Mansoura Urology and Nephrology Center), which is not on this map. Cited by 10 papers.
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The trial behind it
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Evaluation of Prevalence, Molecular and Genetic Backgrounds of Calcium-Based Stones Among Patients With Renal Calcular Disease in Mansoura Urology and Nephrology Center
Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Primary hyperoxaluria type 1 diagnosis in adult dialysis patients: prediction model assessment in a group of Italian patients.Journal of nephrology · 2025Article
- Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1.Kidney international reports · 2024Article
- Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.Kidney diseases (Basel, Switzerland) · 2024Review
- Infant primary hyperoxaluria type 1Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2024Review
- Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients.Frontiers in genetics · 2023Article
- Primary hyperoxaluria: the adult nephrologist's point of view.Clinical kidney journal · 2022Review
- A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.BMC nephrology · 2021Article
- Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.Urolithiasis · 2021Observational
- Two NovelFrontiers in pharmacology · 2019Article
- Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary hyperoxaluria type 1 (PH1) is a rare genetic disease characterized by excessive oxalate accumulation in plasma and urine, resulting in various phenotypes because of allelic and clinical heterogeneity. This study aimed to detect disease-associated genetic mutations in three PH1 patients in a Chinese family. All AGXT exons and 3 common polymorphisms which might synergistically interact with mutations, including P11L, I340 M and IVSI+74 bp were analyzed by direct sequencing in all family members. It demonstrated that in each of three patients, a previously reported nonsense mutation p.R333(*) was in cis with a novel missense mutation p.M49L in the minor allele characterized by the polymorphism of 74-bp duplication in intron 1, while the other novel missense mutation p.N72I was in trans with both p.R333(*) and P.M49L in the major allele. Kidney stones from two sibling patients were also observed though stereomicroscopic examination and scanning electron microscopy. Distinct morphological and inner-structure differences in calculi were noticed, suggesting clinical heterozygosity of PH1 to a certain extent. In brief, two novel missense mutations were identified probably in association with PH1, a finding which should provide an accurate tool for prenatal diagnosis, genetic counseling and screening for potential presymptomatic individuals.
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