Letter K

Keratitis-ichthyosis-deafness syndrome

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>Keratitis -- gradual destruction of the cornea of the eye, sometimes leading to blindness >Ichthyosis -- localized areas of disfiguring reddish thickened skin ('fish skin') >Deafness -- at birth </LI></UL>Another characteristic feature is thin or even absent scalp hair.

Some patients have developed carcinoma of the tongue while others have subtle abnormalities of the nervous system.

The KID syndrome is inherited as an autosomal dominant trait.

The cause of the syndrome is mutation in the GJB2 (connexin 26) gene.

The mutations in GJB2 involve one of the following amino acid substitutions:cine replaced by arginine at position 12 (Gly12Arg), serine replaced by phenylalanine at position 17 (Ser17Phe), or aspartic acid replaced by tyrosine at position 50 (Asp50Tyr).

The disease is also called the KID syndrome, an acronym for <B>K</B>eratitis-<B>I</B>chthyosis-<B>D</B>eafness.

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