ArticleBMC medical genomics2021
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Article in BMC medical genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- Biallelic pathogenic variants inJournal of medical genetics · 2026Article
- Novel PAX2 variants and phenotypic heterogeneity in pediatric kidney disease: a single-center retrospective study.Pediatric nephrology (Berlin, Germany) · 2026Article
- A Novel Pathogenic Variant inCase reports in obstetrics and gynecology · 2026Article
- Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract andKidney international reports · 2025Article
- Clinical Characteristics and Genetic Variants in Children withMedicina (Kaunas, Lithuania) · 2025Article
- Clinical spectrum, genetics and management insights of PAX2-related disorder in nine children.European journal of medical research · 2025Article
- Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.European journal of human genetics : EJHG · 2025Article
- Variable Phenotypic Expression ofMedicina (Kaunas, Lithuania) · 2025Article
- 'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.BMJ case reports · 2025Article
- Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2024Review
- GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract.Human genomics · 2024Article
- Impaired neural circuitry of hippocampus in Pax2 nervous system-specific knockout mice leads to restricted repetitive behaviors.CNS neuroscience & therapeutics · 2024Article
- Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.Kidney international reports · 2023Article
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Authors and funding
29 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPathogenic 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.
methodsWe 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.
resultsTwenty different PAX2 pathogenic variants were identified in 32 individuals (27 families) with a diagnosis of RCS (9), CAKUT (11) and nephrosis (12) from the Chinese cohort. Individuals with abnormal kidney structure (RCS or CAKUT group) tended to have likely/presumed gene disruptive (LGD) variants (Fisher test, p < 0.05). A system review of 234 reported cases to date indicated a clear association of RCS to heterozygous loss-of-function PAX2 variants (LGD variants). Furthermore, we identified a subset of PAX2 missense variants in DNA-binding domain predicted to affect the protein structure or protein-DNA interaction associated with the phenotype of RCS.
conclusionDefining the phenotypic spectrum combined with genotype in PAX2-related disorder allows us to predict the pathogenic variants associated with renal and ophthalmological development. It highlighted the approach of structure-based analysis can be applied to diagnostic strategy aiding precise and timely diagnosis.
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