ArticleJournal of human genetics2018
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 52 citations in OpenAlex.
- Recurrent abdominal pain as a leading symptom for branchio-oto-renal syndrome: a case report.Journal of medical case reports · 2026Article
- A Novel EYA1 Splicing Mutation in a Chinese Family With Branchio-Oto Syndrome: A Functional Analysis and Reproductive Intervention.Clinical and experimental otorhinolaryngology · 2025Article
- Clinical characteristics of patients with SALL1-related disorder.Pediatric nephrology (Berlin, Germany) · 2025Article
- Review
- Renal dysplasia development and chronic kidney disease.Pediatric research · 2025Review
- Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature.Journal of medical case reports · 2025Review
- In vitro generation of a ureteral organoid from pluripotent stem cells.Nature communications · 2025Article
- IPSC-induced podocytes from a BORS patient with EYA1 gene mutation showed glucocorticoid-resistant and cytoskeletal rearrangement.Cellular and molecular life sciences : CMLS · 2025Article
- Targets of the transcription factor Six1 identify previously unreported candidate deafness genes.Development (Cambridge, England) · 2025Article
- Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.Experimental & molecular medicine · 2025Article
- Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea.International journal of molecular sciences · 2024Article
- Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms.BMC medical genomics · 2024Article
- A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application.Clinical and experimental otorhinolaryngology · 2023Article
- Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases.BMC nephrology · 2023Article
- Non-syndromic Bilateral Branchial Cyst: A Case Report.Oman medical journal · 2023Article
- Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction.Frontiers in genetics · 2023Article
- The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns.AJNR. American journal of neuroradiology · 2022Article
- The genetic basis of congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2022Review
- Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to De novo Branchio-oto-renal Syndrome.Internal medicine (Tokyo, Japan) · 2022Article
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Authors and funding
26 authors at 20 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of this study was to reveal the clinical phenotypes and their causative genes in Japanese BOR patients. Patients clinically diagnosed with BOR syndrome were analyzed by direct sequencing, multiplex ligation-dependent probe amplification (MLPA), array-based comparative genomic hybridization (aCGH), and next-generation sequencing (NGS). We identified the causative genes in 38/51 patients from 26/36 families; EYA1 aberrations were identified in 22 families, SALL1 mutations were identified in two families, and SIX1 mutations and a 22q partial tetrasomy were identified in one family each. All patients identified with causative genes suffered from hearing loss. Second branchial arch anomalies, including a cervical fistula or cyst, preauricular pits, and renal anomalies, were frequently identified (>60%) in patients with EYA1 aberrations. Renal hypodysplasia or unknown-cause renal insufficiency was identified in more than half of patients with EYA1 aberrations. Even within the same family, renal phenotypes often varied substantially. In addition to direct sequencing, MLPA and NGS were useful for the genetic analysis of BOR patients.
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