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Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome

Authors
 Mee Hyun Song  ;  Tae-Jun Kwon  ;  Hui Ram Kim  ;  Ju Hyun Jeon  ;  Jeong-In Baek  ;  Won-Sang Lee  ;  Un-Kyung Kim  ;  Jae Young Choi 
Citation
 PLOS ONE, Vol.8(6) : e67236, 2013 
Journal Title
 PLOS ONE 
Issue Date
2013
MeSH
Adolescent ; Adult ; Alternative Splicing ; Base Sequence ; Branchio-Oto-Renal Syndrome/diagnostic imaging ; Branchio-Oto-Renal Syndrome/genetics* ; Branchio-Oto-Renal Syndrome/physiopathology ; Branchio-Oto-Renal Syndrome/therapy ; Child ; DNA Mutational Analysis ; Disease Management ; Ear, Middle/surgery ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; HeLa Cells ; Hearing Loss/diagnostic imaging ; Hearing Loss/genetics* ; Hearing Loss/physiopathology ; Hearing Loss/therapy ; Homeodomain Proteins/genetics* ; Humans ; Infant ; Intracellular Signaling Peptides and Proteins/genetics* ; Intracellular Signaling Peptides and Proteins/metabolism ; Molecular Sequence Data ; Nuclear Proteins/genetics* ; Nuclear Proteins/metabolism ; Point Mutation ; Polymorphism, Genetic ; Protein Tyrosine Phosphatases/genetics* ; Protein Tyrosine Phosphatases/metabolism ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Radiography ; Sequence Deletion ; Temporal Bone/abnormalities ; Temporal Bone/diagnostic imaging ; Young Adult
Keywords
Adolescent ; Adult ; Alternative Splicing ; Base Sequence ; Branchio-Oto-Renal Syndrome/diagnostic imaging ; Branchio-Oto-Renal Syndrome/genetics* ; Branchio-Oto-Renal Syndrome/physiopathology ; Branchio-Oto-Renal Syndrome/therapy ; Child ; DNA Mutational Analysis ; Disease Management ; Ear, Middle/surgery ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; HeLa Cells ; Hearing Loss/diagnostic imaging ; Hearing Loss/genetics* ; Hearing Loss/physiopathology ; Hearing Loss/therapy ; Homeodomain Proteins/genetics* ; Humans ; Infant ; Intracellular Signaling Peptides and Proteins/genetics* ; Intracellular Signaling Peptides and Proteins/metabolism ; Molecular Sequence Data ; Nuclear Proteins/genetics* ; Nuclear Proteins/metabolism ; Point Mutation ; Polymorphism, Genetic ; Protein Tyrosine Phosphatases/genetics* ; Protein Tyrosine Phosphatases/metabolism ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Radiography ; Sequence Deletion ; Temporal Bone/abnormalities ; Temporal Bone/diagnostic imaging ; Young Adult
Abstract
BACKGROUND: Branchio-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. METHODS: The 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. RESULTS: All 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. CONCLUSIONS: Auditory 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.
Files in This Item:
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DOI
10.1371/journal.pone.0067236
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Won Sang(이원상)
Choi, Jae Young(최재영) ORCID logo https://orcid.org/0000-0001-9493-3458
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/88137
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