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- W2558251905 abstract "ObjectiveTo describe the clinical characteristics of one child with primary hyperoxaluria types Ⅲ, and to analyze the potential mutant genes in his family.MethodsAGXT, GRHPR and HOGA1 genes were analyzed by direct sequencing analysis in this family. One hundred unrelated healthy subjects were also analyzed as controls.ResultsThe child had early onset of symptoms (0.8 year). His principal clinical manifestation included nephrolithiasis and obstructive nephropathy, however his nephrocalcinosis was mild. And he presented high urine oxalate, high urine calcium, and lower citrate levels. Two novel heterozygous mutations in HOGA1 were identified (compound heterozygous), one mutation was a 2-bp substitution at the last position in exon 6 and the first position of intron 6 respectively (c.834_834 + 1GG >TT); another was a guanine to adenine substitution of the last nucleotide of exon 6 (c.834G >A). Both of these variants found in this study probably acted as splicing mutations. Direct sequencing analysis failed to find these mutations in 100 unrelated healthy subjects. In addition, a SNP (c.715G >A, p.V239I) was found in this family. There were no mutations detected in AGXT and GRHPR.ConclusionsTwo novel mutations are identified probably in association with PH Ⅲ. This is the first description and investigation on mutant gene analysis of PHⅢ in Asia.Key words: Hyperoxaluria, primary; gene, HOGA1; gene, GRHPR; gene, AGXT" @default.
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- W2558251905 date "2015-10-15" @default.
- W2558251905 modified "2023-09-24" @default.
- W2558251905 title "Analysis of mutant genes in a primary hyperoxaluria type III family" @default.
- W2558251905 doi "https://doi.org/10.3760/cma.j.issn.1001-7097.2015.10.004" @default.
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