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Chapter 114that is important for catecholamine degradation, including dopamine, and PRODH for proline degradation.22 Some evidence, from mice and human studies, indicate a role for COMT and PRODH in the development of the neuropsychiatric phenotype of 22q11.2DS.22-24 In addition, mitochondrial dysfunction, resulting from deletion of at least six mitochondrial genes in the 22q11.2 region,25 may play a role in the cardiac, endocrinologic, neurologic and psychiatric phenotype of 22q11.2DS.23, 25-27 DGCR8 was found to be involved in the development of the cardiac, immune and central nervous system,28 and in the biogenesis of mircoRNAs.29 Non-coding regulatory genes such as microRNAs may be important for the etiology of 22q11.2DS, and have been implicated in fundamental cellular processes such as proliferation and apoptosis.21, 30Figure 2. 22q11.2 deletion region and genes located in this region (Zinkstok et al.,23 reproduced from Guna et al.31)Adults with 22q11.2 deletion syndromeResearch in adults with 22q11.2DS is important because studies in adults are much more scarce compared to studies in children, and manifestations differ from those in children.32, 33 Differences include, for example, an increased risk of developing certain psychiatric disorders such as schizophrenia at adolescent and adult age, 32 whereas in children the emphasis is on the detection and treatment of congenital anomalies and developmental disabilities.34 In order to improve genetic counseling and treatment for adults with 22q11.2DS, it is important to have a good understanding of the natural history, including prevalence estimates of conditions associated with the adult phenotype.35 In addition, knowledge of the influence of age, sex or co-morbidities may facilitate personalized screening and treatment in subgroups that are at increased risk of a certain condition and may prevent overly screening in those who are not. Clinically relevant features at adult age include, but are not limited to, impairments in cognitive and adaptive functioning, anxiety and psychotic disorders,