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Article

Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.

PloS one - 1 Jan 2013

Song Mee Hyun, Kwon Tae-Jun, Kim Hui Ram, Jeon Ju Hyun, Baek Jeong-In, Lee Won-Sang, Kim Un-Kyung, Choi Jae Young

Abstract excerpt

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...

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Source

Open in PubMed Open full text

Identifiers

PMID: 23840632
DOI: 10.1371/journal.pone.0067236
PMCID: PMC3696009

Genes

EYA1
SIX1
SIX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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