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.
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.
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.
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.
Katalin Szakszon is in Debrecen, Hungary. Szakszon is rated as an Elite expert by MediFind in the treatment of Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, Blepharophimosis, Isolated Growth Hormone Deficiency, and Rommen Mueller Sybert Syndrome.
Jill Smith-Clayton is in Manchester, United Kingdom. Smith-Clayton is rated as a Distinguished expert by MediFind in the treatment of Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant. She is also highly rated in 55 other conditions, according to our data. Her top areas of expertise are Angelman Syndrome, Blepharophimosis, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, and Aarskog Syndrome.
Guntram Borck is in Neu-ulm, Germany. Borck is rated as a Distinguished expert by MediFind in the treatment of Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant. They are also highly rated in 27 other conditions, according to our data. Their top areas of expertise are Blepharophimosis, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, Kaufman Oculocerebrofacial Syndrome, and Chondrodysplasia, Grebe Type.
Published Date:updated Last, February
Published By: National Institutes of Health
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