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Vestibular function is associated with residual low-frequency hearing loss in patients with bi-allelic mutations in the SLC26A4 gene

Authors
 Jinsei Jung  ;  Young Wook Seo  ;  Jae Young Choi  ;  Sung Huhn Kim 
Citation
 Hearing Research, Vol.335 : 33-39, 2016 
Journal Title
 Hearing Research 
ISSN
 0378-5955 
Issue Date
2016
MeSH
Adolescent ; Adult ; Alleles ; Audiology ; Female ; Genotype ; Hearing ; Hearing Loss/genetics* ; Hearing Loss, Sensorineural/genetics* ; Humans ; Male ; Membrane Transport Proteins/genetics* ; Middle Aged ; Mutation* ; Phenotype ; Vestibular Aqueduct/abnormalities* ; Vestibule, Labyrinth/physiopathology* ; Young Adult
Keywords
DFNB4 ; Pendrin ; Residual hearing ; SLC26A4 ; Vestibular function
Abstract
DFNB4 is non-syndromic, autosomal recessive type of hearing loss with an enlarged vestibular aqueduct (EVA) caused by mutations in SLC26A4/pendrin. Although the characteristics of hearing loss are well known in DFNB4, vestibular function remains inconclusive. We evaluated the vestibular function of 31 patients with bi-allelic mutations in SLC26A4/pendrin and analyzed genetic, radiological, and audiological correlations with vestibular function. In a caloric test, unilateral and bilateral vestibulopathies were detected in 45.2% and 6.4% of patients, respectively; however, only 22.6% had subjective vertigo symptoms. While vestibular phenotype was not significantly associated with specific mutations in genetic alleles or the sizes of the endolymphatic sac and vestibular aqueduct, a residual hearing threshold at a low frequency (500 Hz) was definitely correlated with vestibular function in DFNB4 (p = 0.005). These findings may indicate that vestibular function in DFNB4 deteriorates unilaterally in ears when hearing loss occurs. In conclusion, DFNB4 shows vestibular dysfunction, which is strongly linked to hearing loss at low frequencies without any allelic or anatomical predisposing factor.
Full Text
http://www.sciencedirect.com/science/article/pii/S0378595515302616
DOI
10.1016/j.heares.2016.02.009
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Sung Huhn(김성헌)
Seo, Young Wook(서영욱)
Jung, Jinsei(정진세) ORCID logo https://orcid.org/0000-0003-1906-6969
Choi, Jae Young(최재영) ORCID logo https://orcid.org/0000-0001-9493-3458
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/152474
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