Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome.
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.
Choung
Yun-Hoon
YH
Department of Otolaryngology, Ajou University School of Medicine, San 5, Wonchon-dong, Yeongtong-gu, Suwon 443-721, South Korea. yhc@ajou.ac.kr
Shin
You Ree
YR
Kim
Hyon J
HJ
Kim
You Chan
YC
Ahn
Jae Hong
JH
Choi
Seong Jun
SJ
Jeong
Seong-Yong
SY
Park
Keehyun
K
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
D018031:Connexin 43; D017630:Connexins; C500216:GJA1 protein, human; C000607042:GJB2 protein, human; D000072259:Connexin 26