• Clinical and Experimental Pediatrics
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• v.46 no.11
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• pp.1135-1138
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• 2003

KID syndrome was named after the initials of the major three symptoms of the disease; keratitis, ichthyosis, and deafness. The syndrome was first introduced by Dr. Burns in 1915 who described one of his patients with those symptoms. In 1981, Dr. Skinner and his colleagues reported 17 patients who had keratitis, ichthyosis, and deafness. They also called the disease KID syndrome for the first time. After that, there have been only 60 cases of KID syndrome reported. KID syndrome may be presented with neurosensory deafness, vascularizing keratitis and such skin disorders as ichthyosis, ichthyosiform skin eruptions, and alopecia. Also, those with KID syndrome may suffer from repetitive infections, dental affections, hypohidrosis, growth delay and hepatic and renal abnormalities. The authors report the first case of KID syndrome in Korea with some references. The patient presented with keratitis, neurosensory deafness, and such characteristic skin disorders as ichthyosis and hyperkeratosis.

• Genomics & Informatics
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• v.8 no.2
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• pp.70-75
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• 2010

Asp66his, Asp54Lys, and Asp50Asn are mutations in connexin 26 that are observed in the clinic and give rise to autosomal dominant syndromes. They are the result of point mutations in the human gap junction ${\beta}-2$ gene. In order to investigate the structural mechanism of Bart-Pumphrey Syndrome, Keratitis-Ichthyosis-Deafness Syndrome, and Vohwinkel Syndrome, homology modeling was carried out. Asp66 has direct contact with Asn62 by two hydrogen bonds in the wild-type protein, and in Asp66His, the biggest change observed is a tremendous energy increase caused by hydrogen bond breakage to Asn62. Shifts in the side chain and new hydrogen bond formation are observed for Lys54 compared to the wild-type protein (Asn54) and result in closer contact to Val84. Asp50Asn causes a significant decrease in bond energy, and residual charge reversal repels the ion and metabolites and, hence, inhibits their transportation. Such perturbations are likely to be a factor contributing to abnormal functioning of ion channels, resulting cell death and disease.