Learn About Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

What is the definition of Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant?

The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.

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What are the causes of Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant?

The SBBYS variant of Ohdo syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to histones, histone acetyltransferases control the activity of certain genes. Little is known about the function of the histone acetyltransferase produced from the KAT6B gene. It appears to regulate genes that are important for early development, including development of the skeleton and nervous system.

How prevalent is Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant?

The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 per million people. At least 19 cases have been reported in the medical literature.

Is Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant an inherited disorder?

This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new mutations in the gene and have occurred 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: February 01, 2013Published By: National Institutes of Health

What are the Latest Advances for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.