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- W4300689623 abstract "To explore the genetic basis for a patient presenting with renal insufficiency.The patient was subjected to whole exome sequencing, and the candidate variant was verified by Sanger sequencing. Transcriptional activity of the PAX2 gene was analyzed by using a PRS4-EGFP reporter plasmid.Genetic testing revealed that the patient has carried a novel de novo heterozygous variant c.418C>T (p.Arg140Trp) of the PAX2 gene. The influence of c.389C>G (p.Pro130Arg), c.478G>A (p.Ala160Thr), c.418C>G (p. Arg140Gly) and c.418C>T (p.Arg140Trp) variants on the transcriptional activity was also evaluated. Functional study has illustrated that the PAX2-P130R, PAX2-R140G and PAX2-R140W variants all had a significant inhibitory effect on the transcriptional activity, but not the PAX2-A160T variant.The isolated renal hypoplasia of the proband is probably due to the likely pathogenic variant of the PAX2 gene." @default.
- W4300689623 created "2022-10-04" @default.
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- W4300689623 date "2022-10-10" @default.
- W4300689623 modified "2023-10-06" @default.
- W4300689623 title "[Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene]." @default.
- W4300689623 doi "https://doi.org/10.3760/cma.j.cn511374-20210831-00710" @default.
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