Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.

ABSTRACT:

Background

Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from renal coloboma syndrome (RCS), congenital anomalies of the kidney and urinary tract (CAKUT) to nephrosis. Phenotypic variability makes it difficult to define the phenotypic spectrum associated with genotype.

Methods

We collected the phenotypes in patients enrolled in the China national multicenter registry who were diagnosed with pathogenic variant in PAX2 and reviewed all published cases with PAX2-related disorders. We conducted a phenotype-based cluster analysis by variant types and molecular modeling of the structural impact of missense variants.

Results

Twenty different PAX2 pathogenic variants were identified in 32 individuals (27

SUBMITTER: Yang X 

PROVIDER: S-EPMC8543950 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature