Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome.

Author: Jie LI ¹ ; Shaowei YIN ; Zeyu YANG ; Meihui LI ; Caixia LIU ; Jesse LI-LING ; Yuan LYU
Author Information

1. Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China. hawk.lv@163.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2020;37(8):847-850
CountryChina
Language:Chinese
Abstract: OBJECTIVE:To diagnose a fetus with Papillorenal syndrome by prenatal ultrasonography and genetic testing, and to correlate its genotype with phenotype.
METHODS:Ultrasound finding of the fetus was reviewed. Muscle sample of the abortus was taken, and genetic variant related to the clinical phenotype was screened by whole exome sequencing (WES). Suspected pathogenic variant was verified by Sanger sequencing.
RESULTS:Prenatal ultrasound revealed severe dysplasia of the fetal kidneys and oligohydramnios. WES revealed that the fetus has carried a c.736G>T (p.Glu246Ter) nonsense variant of the PAX2 gene, which was unreported previously. The result of Sanger sequencing was consistent with that of WES. Both parents of the fetus were of the wild-type, suggesting a de novo origin of the fetal variant.
CONCLUSION:The novel heterozygous c.736G>T (p.Glu246Ter) variant of the PAX2 gene probably underlay the Papillorenal syndrome in the fetus. Above finding has provided a basis for genetic counseling and clinical decision-making.