title: Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome.
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.
authors.affiliation: Department of Otolaryngology, Ajou University School of Medicine, San 5, Wonchon-dong, Yeongtong-gu, Suwon 443-721, South Korea. yhc@ajou.ac.kr
authors.forename: Yun-Hoon
authors.initials: YH
authors.lastname: Choung
authors.forename: You Ree
authors.initials: YR
authors.lastname: Shin
authors.forename: Hyon J
authors.initials: HJ
authors.lastname: Kim
authors.forename: You Chan
authors.initials: YC
authors.lastname: Kim
authors.forename: Jae Hong
authors.initials: JH
authors.lastname: Ahn
authors.forename: Seong Jun
authors.initials: SJ
authors.lastname: Choi
authors.forename: Seong-Yong
authors.initials: SY
authors.lastname: Jeong
authors.forename: Keehyun
authors.initials: K
authors.lastname: Park
mesh_terms: D002675:Child, Preschool; D019929:Cochlear Implantation; D000072259:Connexin 26; D018031:Connexin 43 / Q000235:genetics; D017630:Connexins / Q000235:genetics; D015536:Down-Regulation; D006312:Hearing Loss, Bilateral / Q000235:genetics / Q000601:surgery; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000601:surgery*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007150:Immunohistochemistry; D007634:Keratitis / Q000235:genetics*; D008297:Male; D013577:Syndrome; D015854:Up-Regulation; D014786:Vision Disorders / Q000235:genetics
chemical_list: D018031:Connexin 43; D017630:Connexins; C500216:GJA1 protein, human; C000607042:GJB2 protein, human; D000072259:Connexin 26