biostudies-literatureUnknown13Xiong HY<b>Background:</b> <i>PAX2</i> is a nuclear transcription factor gene that is highly conserved among species. Variants within <i>PAX2</i> could result in optic nerve colobomas and kidney hypoplasia. However, little clinical and genetic information is currently available about <i>PAX2</i> variants in Chinese children. <b>Objective:</b> This study aims to further understand the clinical manifestations and genetic characteristics of <i>PAX2</i> variants in Chinese population. <b>Methods:</b> In this single-center retrospective study, we analyzed the clinical data of 10 children identified as carriers of <i>PAX2</i> variants by gene sequencing. All the variants found in this study were analyzed using <i>in silico</i> prediction and American College of Medical Genetics and Genomics (ACMG) standFrontiers in genetics799562https://www.ebi.ac.uk/biostudies/studies/S-EPMC9014304biostudies-literatureDetection of <i>De Novo PAX2</i> Variants and Phenotypes in Chinese Population: A Single-Center Study.PMC9014304Zhang GYang HWang MZhong CXiong HYShi YQChen YLi QYang QWu DfalseDetection of <i>De Novo PAX2</i> Variants and Phenotypes in Chinese Population: A Single-Center Study.<b>Background:</b> <i>PAX2</i> is a nuclear transcription factor gene that is highly conserved among species. Variants within <i>PAX2</i> could result in optic nerve colobomas and kidney hypoplasia. However, little clinical and genetic information is currently available about <i>PAX2</i> variants in Chinese children. <b>Objective:</b> This study aims to further understand the clinical manifestations and genetic characteristics of <i>PAX2</i> variants in Chinese population. <b>Methods:</b> In this single-center retrospective study, we analyzed the clinical data of 10 children identified as carriers of <i>PAX2</i> variants by gene sequencing. All the variants found in this study were analyzed using <i>in silico</i> prediction and American College of Medical Genetics and Genomics (ACMG) stand2022-01-01T00:00:00Z20222025-04-18T22:58:57.464Z2025-04-07T10:40:59.446ZS-EPMC90143043544469010.3389/fgene.2022.799562