Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.

[pendred syndrome]

To investigate possible association of hearing loss and SLC 26 A 4 mutations with the subgroups of enlarged vestibular aqueduct (EVA ) morphology in Japanese subjects with hearing loss .Retrospective multicenter study .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 SLC 26 A 4 .Four novel SLC 26 A 4 mutations were identified in the present study . SLC 26 A 4 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 SLC 26 A 4 mutation . No significant difference was found in the distribution of truncating and nontruncating SLC 26 A 4 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 .Subgroups of EVA morphology were significantly correlated with the presence or absence of SLC 26 A 4 mutation . In a subgroup analysis of subjects with SLC 26 A 4 mutations , however , differences in the EVA subgroups were not correlated with SLC 26 A 4 genotypes or characteristics of hearing loss .NA .

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