Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study.

ABSTRACT: Background: PAX2 is a nuclear transcription factor gene that is highly conserved among species. Variants within PAX2 could result in optic nerve colobomas and kidney hypoplasia. However, little clinical and genetic information is currently available about PAX2 variants in Chinese children. Objective: This study aims to further understand the clinical manifestations and genetic characteristics of PAX2 variants in Chinese population. Methods: In this single-center retrospective study, we analyzed the clinical data of 10 children identified as carriers of PAX2 variants by gene sequencing. All the variants found in this study were analyzed using in silico prediction and American College of Medical Genetics and Genomics (ACMG) stand

SUBMITTER: Xiong HY 

PROVIDER: S-EPMC9014304 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature