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: Yun-Hoon Choung, You Ree Shin, Hyon J Kim, You Chan Kim, Jae Hong Ahn, Seong Jun Choi, Seong-Yong Jeong, Keehyun Park
• Journal: International journal of pediatric otorhinolaryngology (Int J Pediatr Otorhinolaryngol) Vol. 72 Issue 6 Pg. 911-5 (Jun 2008) ISSN: 0165-5876 [Print] Ireland
• PMID: 18423892 (Publication Type: Case Reports, Journal Article)

Chemical References

• Connexin 43
• Connexins
• GJA1 protein, human
• GJB2 protein, human
• Connexin 26

Topics

• Child, Preschool
• Cochlear Implantation
• Connexin 26
• Connexin 43 (genetics)
• Connexins (genetics)
• Down-Regulation
• Hearing Loss, Bilateral (genetics, surgery)
• Hearing Loss, Sensorineural (genetics, surgery)
• Humans
• Ichthyosis (genetics)
• Immunohistochemistry
• Keratitis (genetics)
• Male
• Syndrome
• Up-Regulation
• Vision Disorders (genetics)