SynthesisCurrent medical science2018
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
Synthesis in Current medical science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 21 citations in OpenAlex.
- 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
- Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients.Frontiers in genetics · 2023Article
- Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.Human mutation · 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
- Lumasiran for primary hyperoxaluria type 1: What we have learned?Frontiers in pediatrics · 2022Review
- Clinical analysis of 13 children with primary hyperoxaluria type 1.Urolithiasis · 2021Article
- 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
- Novel mutations in response to vitamin B6 in primary hyperoxaluria type 1 after only kidney transplantation: a case report.Translational andrology and urology · 2020Article
- Human MiR-4660 regulates the expression of alanine-glyoxylate aminotransferase and may be a biomarker for idiopathic oxalosis.Clinical and experimental nephrology · 2019Article
- Monogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center.La Tunisie medicaleObservational
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary hyperoxaluria type 1 (PH1) is a rare but devastating autosomal recessive inherited disease caused by mutations in gene AGXT. Pathogenic mutations of AGXT were mostly reported in Caucasian but infrequently in Asian, especially in Chinese. To update the genotypes of PH1 in the Chinese population, we collected and identified 7 Chinese probands with PH1 from 2013 to 2017 in our center, five of whom had delayed diagnosis and failed in kidney transplantation. Samples of peripheral blood DNA from the 7 patients and their family members were collected and sequencing analysis was performed to test the mutations of gene AGXT. Western blotting and enzyme activity analysis were conducted to evaluate the function of the mutations. Furthermore, a systematic review from 1998 to 2017 was performed to observe the genetic characteristics between Chinese and Caucasian. The results showed that a total of 12 mutations were identified in the 7 pedigrees. To the best of our knowledge, 2 novel variants of AGXT, p.Gly41Trp and p.Leu33Met, were first reported. Bioinformatics and functional analysis showed that only 7 mutations led to a reduced expression of alanine-glyoxylate amino transferase (AGT) at a protein level. The systematic review revealed significant population heterogeneity in PH1. In conclusion, new genetic subtypes and genetic characteristics of PH1 are updated in the Chinese population. Furthermore, a genotype-phenotype correlation is found in PH1.
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