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

• Published in: The Laryngoscope Vol. 124; no. 4; p. E134
• Main 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
• Format: Journal Article
• Language: English
• Published: United States 01.04.2014
• Subjects: Adolescent; Adult; Audiometry, Pure-Tone; Biological Transport; Child; Child, Preschool; Disease Progression; DNA - genetics; DNA Mutational Analysis; Female; Genotype; Hearing Loss - etiology; Hearing Loss - genetics; Hearing Loss - metabolism; Hearing Loss, Sensorineural - complications; Hearing Loss, Sensorineural - diagnostic imaging; Hearing Loss, Sensorineural - genetics; Humans; Infant; Infant, Newborn; Male; Membrane Transport Proteins - genetics; Membrane Transport Proteins - metabolism; Middle Aged; Mutation; Phenotype; Retrospective Studies; Temporal Bone - diagnostic imaging; Tomography, X-Ray Computed; Vestibular Aqueduct - abnormalities; Vestibular Aqueduct - diagnostic imaging; Young Adult; computed tomography; DFNB4; Pendred syndrome; hearing loss; SLC26A4; Enlarged vestibular aqueduct

To investigate possible association of hearing loss and SLC26A4 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 c...