Say-Barber-Biesecker-Young-Simpson syndrome, a variant of Ohdo syndrome is primarily inherited through autosomal dominance.<unk>  is associated with the mutation of the KAT6B gene on chromosome 10q22. This is caused by a heterozygous mutation in the KAT6B gene. The KAT6B gene possesses the instructions to make the enzyme histone acetyltransferase. This enzyme is known to modify histones, which are proteins that can bind to DNA. Histones shape chromosomes, making certain areas of genes active or inactive. Additionally, acetyltransferase can add acetyl groups to histones which also controls the activity of certain genes. In<unk> , a mutation of the KAT6B gene and shortage of enzyme acetyltransferase impairs gene regulation during early development, for example, nervous system and skeleton development. There is little known about how the specific changes within the KAT6B lead to specific features within the disease or the severity of the disease.
Young–Simpson syndrome
Antley–Bixler syndrome
Witteveen–Kolk syndrome
Grisel's syndrome
Havana syndrome
Michels Caskey syndrome
Bogart–Bacall syndrome
Fowler's syndrome