Abstract
BackgroundBranchio-oto-renal (BOR) or branchio-otic (BO) syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. In this study, clinical and genetic analyses were performed in patients with BOR/BO syndrome focusing on auditory manifestations and rehabilitation.MethodsThe audiologic manifestations were reviewed in 10 patients with BOR/BO syndrome. The operative findings and hearing outcome were analyzed in patients who underwent middle ear surgeries. The modality and outcome of auditory rehabilitation were evaluated. Genetic analysis was performed for EYA1, SIX1, and SIX5 genes.ResultsAll patients presented with mixed hearing loss. Five patients underwent middle ear surgeries without successful hearing gain. Cochlear implantation performed in two patients resulted in significant hearing improvement. Genetic analysis revealed four novel EYA1 mutations and a large deletion encompassing the EYA1 gene.ConclusionsAuditory rehabilitation in BOR/BO syndrome should be individually tailored keeping in mind the high failure rate after middle ear surgeries. Successful outcome can be expected with cochlear implantations in patients with BOR/BO syndrome who cannot benefit from hearing aids. The novel EYA1 mutations may add to the genotypic and phenotypic spectrum of BOR syndrome in the East Asian population.
Highlights
Branchio-oto-renal (BOR) syndrome (OMIM 113650) or branchio-otic (BO) syndrome (OMIM 602588) is one of the most common forms of autosomal dominant syndromic hearing loss with an incidence of 1:40,000 and is responsible for causing 2% of profoundly deaf children [1]
Nine patients were diagnosed as typical BOR/BO syndrome according to the criteria by Chang et al [3], while one patient exhibited only mixed type of hearing loss and inner ear anomalies to be classified as atypical BOR/BO syndrome
BOR/BO syndrome, the results of this study may provide some evidence for recommending cochlear implantation in patients with BOR/BO syndrome who cannot benefit from hearing aids despite the conductive component of hearing loss
Summary
Branchio-oto-renal (BOR) syndrome (OMIM 113650) or branchio-otic (BO) syndrome (OMIM 602588) is one of the most common forms of autosomal dominant syndromic hearing loss with an incidence of 1:40,000 and is responsible for causing 2% of profoundly deaf children [1]. The clinical manifestations of BOR syndrome include hearing loss (93%), preauricular pits or tags (82%), renal anomalies (67%), branchial fistulae (49%), and pinnae deformity (36%) [2]. Mutations of the EYA1 gene are found in approximately 40% of patients with BOR syndrome [3]. In addition to the EYA1 gene, mutations in the SIX1 and SIX5 genes have been reported to cause BOR phenotypes, the pathogenic role of the SIX5 gene has been questioned recently [5,6,7]. Branchio-oto-renal (BOR) or branchio-otic (BO) syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Clinical and genetic analyses were performed in patients with BOR/BO syndrome focusing on auditory manifestations and rehabilitation
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