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Cochlear Implant Surgery and Electrically-evoked Auditory Brainstem Response Recordings in C57BL/6 Mice
Published on: January 9, 2019
Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome
Yun-Hoon Choung1, You Ree Shin, Hyon J Kim
1Department of Otolaryngology, Ajou University School of Medicine, San 5, Wonchon-dong, Yeongtong-gu, Suwon 443-721, South Korea. yhc@ajou.ac.kr
Abstract:
We report one child with keratitis-ichthyosis-deafness (KID) syndrome. The child showed sparse, short scalp and body hairs, ichthyotic skin, bilateral sensorineural hearing loss, and visual loss. These are associated with a nucleotide substitution, 148G>A, which results in amino acid change in codon 50 of gap junctional protein connexin (Cx) 26. Immunohistochemistry of skins showed up-regulation of Cx26 and down-regulation of Cx43. He has benefited from cochlear implantation for hearing even though low visual function and skin problems with high risk of infections. This is the very rare report about Cx expression in skins and cochlear implantation in KID syndrome.