Learn About Keratitis-Ichthyosis-Deafness Syndrome

What is the definition of Keratitis-Ichthyosis-Deafness Syndrome?

Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.

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What are the causes of Keratitis-Ichthyosis-Deafness Syndrome?

KID syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules.

How prevalent is Keratitis-Ichthyosis-Deafness Syndrome?

KID syndrome is a rare disorder. Its prevalence is unknown. Approximately 100 cases have been reported.

Is Keratitis-Ichthyosis-Deafness Syndrome an inherited disorder?

KID syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

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Who are the sources who wrote this article ?

Published Date: November 01, 2012Published By: National Institutes of Health

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