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

is a nuclear transcription factor gene that is highly conserved among species. Variants within could result in optic nerve colobomas and kidney hypoplasia. However, little clinical and genetic information is currently available about variants in Chinese children. This study aims to further understand the clinical manifestations and genetic characteristics of variants in Chinese population. In this single-center retrospective study, we analyzed the clinical data of 10 children identified as carriers of variants by gene sequencing. All the variants found in this study were analyzed using prediction and American College of Medical Genetics and Genomics (ACMG) standards and guidelines. The mean age for developing the first symptom in 10 unrelated children was 7.2 years old. Proteinuria and bilateral kidney dysplasia were found in every patient. Two children underwent kidney histological examination; one child showed high-intensity C1q deposition in the kidney, and the other child showed focal segmental glomerular sclerosis (FSGS). Three children had -related ocular abnormalities, including nystagmus, retinal exudation, amblyopia, microphthalmia, microcornea, and total blindness. In addition, one patient had the comorbidity of oculocutaneous albinism (OCA). Eight different variants were found in ten patients, three of which were reported for the first time. We reported some patients with unique manifestations and comorbidities, and we reported three variants that have not been previously identified. The gene is prone to spontaneous variants, and the outcome of patients is unfavorable. Because of the lack of specific therapy, genetic testing should be recommended for individuals with obvious evidence of kidney dysplasia and eye abnormalities, and kidney protective treatment should be initiated early.