Figure 2.

Aspects of the two most prevalent and best-understood neurocristopathies/ribosomopathies, Treacher Collins Syndrome and Diamond-Blackfan anemia. At the top, the diagram depicts known genes with causative mutations in the respective disorders. For more in depth reviews see Trainor (2010), Dauwerse et al. (2011), Payne et al. (2012), and Boultwood et al. (2013). The most-common symptoms are listed below. These symptoms may appear isolated or more commonly in conjunction with the other symptoms. Current treatments and approaches for ameliorating the effects of these syndromes. For the commonly found craniofacial dysplasias only reconstructive surgery is effectively used at this point. While leucine treatment has had positive results in human patients, amino acid treatments come with a bevy of side effects such as ketoacidosis, decreased blood sugar due to increased insulin release by the pancreas, complications of lung function, and hepatic encephalopathy. Recent studies in animal models have shown that Tp53 inhibition will at least partially rescue phenotypic deficiencies in TCS and that Tp53 inhibition and leucine treatment reduce the severity of the effects of DBA.