{Reference Type}: Journal Article
{Title}: [Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene].
{Author}: Zhao X;Zheng Y;Liu N;Wang C;Zhao G;Zhang J;Kong X;Zhao X;Zheng Y;Liu N;Wang C;Zhao G;Zhang J;Kong X;
{Journal}: Zhonghua Yi Xue Yi Chuan Xue Za Zhi
{Volume}: 39
{Issue}: 10
{Year}: Oct 2022 10
暂无{DOI}: 10.3760/cma.j.cn511374-20210831-00710
{Abstract}: <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.