ArticlePloS one2015
Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 53 citations in OpenAlex.
- The C-terminal region of KIF26B is indispensable for nephron progenitor condensation and kidney formation in mice.FEBS open bio · 2026Article
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- Genotype-phenotype correlations and functional characterization of novelRenal failure · 2025Article
- Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract andKidney international reports · 2025Article
- In vitro generation of a ureteral organoid from pluripotent stem cells.Nature communications · 2025Article
- A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2025Review
- 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
- Congenital Optic Disc Anomalies: Insights from Multimodal Imaging.Journal of clinical medicine · 2024Review
- Oligomeganephronia with PAX2 gene deletion diagnosed at the third renal biopsy: a case report.Journal of nephrology · 2024Article
- Review
- Article
- Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.PloS one · 2022Article
- Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases.Kidney diseases (Basel, Switzerland) · 2021Review
- Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.BMC medical genomics · 2021Article
- Identification of candidate PAX2-regulated genes implicated in human kidney development.Scientific reports · 2021Article
- Article
- Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.American journal of medical genetics. Part A · 2020Article
- Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.Clinical genetics · 2020Article
- Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report.BMC ophthalmology · 2020Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRenal coloboma syndrome (RCS) is characterized by renal anomalies and optic nerve colobomas. PAX2 mutations contribute to RCS. However, approximately half of the patients with RCS have no mutation in PAX2 gene.
methodsTo investigate the incidence and effects of mutations of PAX2 and 25 candidate genes, patient genes were screened using next-generation sequence analysis, and candidate mutations were confirmed using Sanger sequencing. The correlation between mutations and clinical manifestation was evaluated.
resultThirty patients, including 26 patients (two families of five and two, 19 sporadic cases) with RCS, and 4 optic nerve coloboma only control cases were evaluated in the present study. Six PAX2 mutations in 21 probands [28%; two in family cohorts (n = 5 and n = 2) and in 4 out of 19 patients with sporadic disease] including four novel mutations were confirmed using Sanger sequencing. Moreover, four other sequence variants (CHD7, SALL4, KIF26B, and SIX4) were also confirmed, including a potentially pathogenic novel KIF26B mutation. Kidney function and proteinuria were more severe in patients with PAX2 mutations than in those without the mutation. Moreover, the coloboma score was significantly higher in patients with PAX2 gene mutations. Three out of five patients with PAX2 mutations had focal segmental glomerulosclerosis (FSGS) diagnosed from kidney biopsies.
conclusionThe results of this study identify several new mutations of PAX2, and sequence variants in four additional genes, including a novel potentially pathogenic mutation in KIF26B, which may play a role in the pathogenesis of RCS.
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