Cochlear implantation and connexin expression in the child with keratitis–ichthyosis–deafness syndrome
| Autor: | Jaehong Ahn, You Ree Shin, Seong-Yong Jeong, You Chan Kim, Seong Jun Choi, Hyon J. Kim, Keehyun Park, Yun-Hoon Choung |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
Pathology medicine.medical_specialty Keratitis–ichthyosis–deafness syndrome Hearing Loss Sensorineural Vision Disorders Down-Regulation Connexin Audiology Connexins Keratitis Hearing Loss Bilateral otorhinolaryngologic diseases medicine Humans Cochlear implantation integumentary system Ichthyosis business.industry Syndrome General Medicine medicine.disease Cochlear Implantation Immunohistochemistry Up-Regulation Connexin 26 medicine.anatomical_structure Otorhinolaryngology Child Preschool Connexin 43 Scalp Pediatrics Perinatology and Child Health sense organs business Kid syndrome |
| Zdroj: | International Journal of Pediatric Otorhinolaryngology. 72:911-915 |
| ISSN: | 0165-5876 |
| DOI: | 10.1016/j.ijporl.2008.02.023 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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