<unk>  is inherited in an autosomal dominant fashion.<unk>  is a microdeletion syndrome involving chromosomal segment 16p13.3 and is characterized by mutations in the CREBBP gene. Varying amounts of material are deleted from this section of the chromosome and accounts for the spectrum of physiological symptoms. The CREBBP gene makes a protein that helps control the activity of many other genes. The protein, called CREB-binding protein, plays an important role in regulating cell growth and division and is essential for normal fetal development. If one copy of the CREBBP gene is deleted or mutated, cells make only half of the normal amount of CREB binding protein. A reduction in the amount of this protein disrupts normal development before and after birth, leading to the signs and symptoms of<unk> . Mutations in the EP300 gene are responsible for a small percentage of cases of<unk> . These mutations result in the loss of one copy of the gene in each cell, which reduces the amount of p300 protein by half. Some mutations lead to the production of a very short, nonfunctional version of the p300 protein, while others prevent one copy of the gene from making any protein at all. Although researchers do not know how a reduction in the amount of p300 protein leads to the specific features of<unk> , it is clear that the loss of one copy of the EP300 gene disrupts normal development. A mouse model has been identified in order to perform experimental research procedures. The model has exhibited the same clinical symptoms seen in humans and has become a foundation for future research. Unfortunately, in nearly 40% of cases, neither gene, CREBBP or EP300, can be implicated in the cause of the disease. In these cases, there is no mutation on the 16th chromosome leaving many more questions yet to be answered. However, new research shows that around 55% of cases involve a mutation in the CBP gene, further suggesting that this disease has its origins in mutation of the regulatory mechanisms of transcription (Izumi, 2016).
Rubinstein–Taybi syndrome
Dubin–Johnson syndrome
Vanishing bile duct syndrome
Crigler–Najjar syndrome
Wilson–Mikity syndrome
Frank–Ter Haar syndrome
Shwachman–Diamond syndrome
Gaucher's disease