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Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome.

Authors
Choung, YH; Shin, YR; Kim, HJ; Kim, YC; Ahn, JH; Choi, SJ; Jeong, SY; Park, K
Citation
International journal of pediatric otorhinolaryngology, 72(6):911-915, 2008
Journal Title
International journal of pediatric otorhinolaryngology
ISSN
0165-58761872-8464
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.
MeSH terms
Child, PreschoolCochlear Implantation*Connexin 43/geneticsConnexins/geneticsDown-RegulationHearing Loss, Bilateral/geneticsHearing Loss, Bilateral/surgeryHearing Loss, Sensorineural/genetics*Hearing Loss, Sensorineural/surgery*HumansIchthyosis/genetics*ImmunohistochemistryKeratitis/genetics*MaleSyndromeUp-RegulationVision Disorders/genetics
DOI
10.1016/j.ijporl.2008.02.023
PMID
18423892
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Otolaryngology
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Journal Papers > School of Medicine / Graduate School of Medicine > Dermatology
Journal Papers > School of Medicine / Graduate School of Medicine > Ophthalmology
AJOU Authors
정연훈김현주김유찬안재홍최성준정선용박기현
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