A novel PAX2 heterozygous mutation in a family with Papillorenal syndrome: A case report and review of the literature.

ABSTRACT:

Purpose

Papillorenal syndrome (PAPRS) is a rare inherited disorder often involves abnormalities of eye and kidney. Paired box 2 (PAX2) gene, which is widely expressed in the development of the organs including kidney, ureter, eye, ear, and central nervous system has been considered an underlying cause of PAPRS. The present work aims to further our understanding of PAX2 gene and PAPRS by reporting a family with PAPRS associated with a novel PAX2 mutation and describing ocular manifestation of PAX2 mutation in previous literatures.

Observation

We herein present a family with PAPRS presented with typical congenital optic disc defects and mild renal dysplasia. Through screening of candidate genes based on the next-generation sequencing, the heterozygo

SUBMITTER: Liu S 

PROVIDER: S-EPMC8102412 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature