Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss. (17th December 2013)

• Record Type: Journal Article
• Authors: Okamoto, Yasuhide; Mutai, Hideki; Nakano, Atsuko; Arimoto, Yukiko; Sugiuchi, Tomoko; Masuda, Sawako; Morimoto, Noriko; Sakamoto, Hirokazu; Ogahara, Noboru; Takagi, Akira; Taiji, Hidenobu; Kaga, Kimitaka; Ogawa, Kaoru; Matsunaga, Tatsuo
• Is Part Of: Laryngoscope. Volume 124:Number 4(2014:Apr.)
• Page Start: E134
• Page End: E140
• Publication Date: 2013-12-17
• Subjects: Otolaryngology -- Periodicals; 617.51005
• DOI: 10.1002/lary.24368
• Languages: English
• ISSNs: 0023-852X

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="lary24368-sec-0001" sec-type="section"> <title>Objectives/Hypothesis</title> <p>To investigate possible association of hearing loss and <italic>SLC26A4</italic> mutations with the subgroups of enlarged vestibular aqueduct (EVA) morphology in Japanese subjects with hearing loss.</p> </sec> <sec id="lary24368-sec-0002" sec-type="section"> <title>Study Design</title> <p>Retrospective multicenter study.</p> </sec> <sec id="lary24368-sec-0003" sec-type="section"> <title>Methods</title> <p>Forty‐seven subjects who had vestibular aqueduct with midpoint diameter >1 mm by computed tomography of the temporal bone were enrolled at multiple sites across Japan, and DNA samples and clinical data were collected. EVA morphology was classified into four subgroups by the pattern of enlargement: aperture, aperture and midpoint, midpoint, and borderline enlargement. Venous blood DNA samples were subjected to polymerase chain reaction–based direct sequencing of all exons and exon–intron boundaries of the <italic>SLC26A4</italic>.</p> </sec> <sec id="lary24368-sec-0004" sec-type="section"> <title>Results</title> <p>Four novel <italic>SLC26A4</italic> mutations were identified in the present study. <italic>SLC26A4</italic> mutations were detected in almost all subjects with aperture, aperture and midpoint, and midpoint enlargement. In contrast, 71% of subjects with borderline enlargement had no <italic>SLC26A4</italic> mutation. No significant difference was found in the distribution of truncating and nontruncating <italic>SLC26A4</italic> mutations between the EVA subgroups. In addition, no significant correlation was observed between the EVA subgroups and hearing levels, incidence of hearing fluctuation, or progression of hearing loss.</p> </sec> <sec id="lary24368-sec-0005" sec-type="section"> <title>Conclusions</title> <p>Subgroups of EVA morphology were significantly correlated with the presence or absence of <italic>SLC26A4</italic> mutation. In a subgroup analysis of subjects with <italic>SLC26A4</italic> mutations, however, differences in the EVA subgroups were not correlated with <italic>SLC26A4</italic> genotypes or characteristics of hearing loss.</p> </sec> <sec id="lary24368-sec-1005" sec-type="section"> <title>Level of Evidence</title> <p>NA. <italic>Laryngoscope</italic>, 124:E134–E140, 2014</p> </sec> </abstract>