ArticleWorld journal of urology2019
Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones.
Article in World journal of urology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 14 citations in OpenAlex.
- Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.Molecular biology reports · 2025Article
- Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.Orphanet journal of rare diseases · 2025Article
- Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.Kidney diseases (Basel, Switzerland) · 2024Review
- Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.Urolithiasis · 2023Article
- HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships.World journal of urology · 2023Article
- Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients.Frontiers in genetics · 2023Article
- Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.Molecular genetics & genomic medicine · 2022Article
- A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.BMC nephrology · 2021Article
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Authors and funding
7 authors at 2 institutions in 1 country.
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Abstract
purposeWe analyzed primary hyperoxaluria (PH) genotype and phenotype in Chinese children. Vitamin B
methodsWe, respectively, analyzed 80 children with urinary stones. Sixty-four children were diagnosed with hyperoxaluria. Twenty-one children consented to genetic evaluation (targeted gene panel-based and whole-exome sequencing), and DNA was obtained from the children and both the parents.
resultsPH accounted for 57.1% (12/21) of hyperoxaluria cases. We reported 12 PH cases, including 5 PH1, 1 PH2, and 6 PH3 cases; 2 novel mutations in AGXT and GRHPR each and 4 HOGA1 mutations were identified. The mutations in AGXT and GRHPR were c0.1161C>A and c0.551C>A, and c0.370C>T and c0.864_865delTG, respectively. Four HOGA1 mutations, c0.290G>A, c0.110G>A, c0.554C>T and c0.834_834 + 1delinsTT, were not reported previously. The average urine Ox 24 level in the PH patients was 0.91 mmol/1.73 m
conclusionsPH incidence was higher than the reported PH incidence in children with urinary stones. Hence, we suggested that genetic examination was necessary for all the children with hyperoxaluria. These novel mutations broaden the range of known gene mutations in PH.
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