%0 Journal Article
%T [Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene].
%A Zhao X
%A Zheng Y
%A Liu N
%A Wang C
%A Zhao G
%A Zhang J
%A Kong X
%A Zhao X
%A Zheng Y
%A Liu N
%A Wang C
%A Zhao G
%A Zhang J
%A Kong X
%J Zhonghua Yi Xue Yi Chuan Xue Za Zhi
%V 39
%N 10
%D Oct 2022 10
%M 36184096
暂无%R 10.3760/cma.j.cn511374-20210831-00710
%X <B>OBJECTIVE: </B>To explore the genetic basis for a patient presenting with renal insufficiency.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>The isolated renal hypoplasia of the proband is probably due to the likely pathogenic variant of the PAX2 gene.