Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene.
10.3760/cma.j.cn511374-20210831-00710
- Author:
Xuechao ZHAO
1
;
Yuting ZHENG
;
Ning LIU
;
Conghui WANG
;
Ganye ZHAO
;
Junjun ZHANG
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kxd1968@163.com.
- Publication Type:Journal Article
- MeSH:
Coloboma/genetics*;
Genetic Testing;
Humans;
Mutation;
PAX2 Transcription Factor/genetics*;
Renal Insufficiency/genetics*;
Vesico-Ureteral Reflux
- From:
Chinese Journal of Medical Genetics
2022;39(10):1120-1123
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a patient presenting with renal insufficiency.
METHODS: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.
RESULTS: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.
CONCLUSION:The isolated renal hypoplasia of the proband is probably due to the likely pathogenic variant of the PAX2 gene.
