ArticleMolecular genetics & genomic medicine2019
Diverse phenotypes in children with PAX2-related disorder.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 41 citations in OpenAlex.
- Proteinuria in adolescence.Pediatric nephrology (Berlin, Germany) · 2026Review
- Novel PAX2 variants and phenotypic heterogeneity in pediatric kidney disease: a single-center retrospective study.Pediatric nephrology (Berlin, Germany) · 2026Article
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.Clinical case reports · 2026Article
- 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
- 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 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
- 'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.BMJ case reports · 2025Article
- Genetic and radiological aspects of pediatric renal cystic disease: A case seriesBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Review
- Renal Coloboma Syndrome-An Autosomal Dominant Genetic Disorder.The Indian journal of radiology & imaging · 2023Article
- Article
- Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations.Clinical nephrology. Case studies · 2022Article
- Detection ofFrontiers in genetics · 2022Article
- Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.BMC medical genomics · 2021Article
- A novelAmerican journal of ophthalmology case reports · 2021Article
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe aim of this study was to analyze the diverse phenotypes of children with PAX2-related disorder so as to improve our understanding of this disease.
methodsThe clinical data of ten children with PAX2 mutations, detected by targeted region capture sequencing or whole-exome sequencing, were retrospectively analyzed. Family members of index cases were verified by Sanger sequencing and family segregation analysis was performed.
resultsThe age of first symptom of 10 unrelated children (six girls and four boys) was 6.4 (ranged from postnatal day to 14.8) years old. Proteinuria, abnormal renal function, and structure were found in all patients. Renal hypoplasia and renal cysts were found in 10 of 10 and five of 10 cases, respectively. Three patients progressed to chronic kidney disease stage 5 and the onset age of end-stage renal disease was 9.8-16.4 years old. PAX2-related ocular abnormalities were found in five of seven cases and three patients were observed to have more than one ocular findings involved. In addition to diverse renal and ocular findings, new phenotypes including congenital ventricular septal defect, skeletal deformity (fourth metatarsal microsomia), ovarian teratoma, and relatively rare extrarenal manifestations such as growth retardation, gout, and microcephaly were also found. Three novel mutations were reported for the first time. De novo mutations occurred in all patients who were carried out segregation analysis. Patients with the same mutation had different manifestations. PAX2-related disorder showed remarkable clinical variability and phenotypic heterogeneity.
conclusionWe firstly reported skeletal deformity (fourth metatarsal microsomia), ovarian teratoma, and congenital ventricular septal defect as new phenotypes of PAX2-related disorder which enlarged the phenotypic spectrum. Gout was firstly reported as the onset symptom of PAX2-related disorder. The diagnosis of PAX2-related disorder should be considered without family history due to a much higher percentage of De novo mutations.
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