Kabuki syndrome

Cause of Kabuki

On August 15, 2010 researchers at the University of Washington announced the discovery of the MLL2 geneⁱ mutations responsible for approximately 75% of individuals with Kabuki Syndrome.

 The scientists used a "second generation" technique to examine only the protein-coding gene portion of the human genome, called the exome. Since the exome constitutes only 1 - 2% of the human genome, the cost and time requirement has been greatly reduced, making it more plausible to look for gene mutations.

There are different reasons why a gene may have a mutation. In the case of Kabuki, the MLL2 gene mutations were found to be due to either nonsense or frame-shift mutation which resulted in a shortened, nonfunctional protein. To help families better understand the basics of the discovery please see Understanding the Genetics of Kabuki.

It is speculated that Kabuki is a heterogeneous syndrome, meaning that multiple genes could potentially be involved. It is hoped that with continued analysis, other genes will be discovered.

Incidence

It had been initially suggested that Kabuki has a prevalence of 1 in 32,000 live births. However, a number of succeeding studies have thrown some question on this number. It is speculated that Kabuki could be as common as 1 in 10,000 live births.
Kabuki is found equally in males and females.

Lifespan

Present data on Kabuki syndrome does not point to a shortened life span. Many of the medical issues arise early in the child's life and can often be resolved with medical intervention. However, since the syndrome was only formally discovered in 1981, more longitudinal follow-up of individuals will be necessary before we can fully understand typical lifespan for someone with Kabuki Syndrome.

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