Ontology highlight
ABSTRACT:
SUBMITTER: Franconi CP
PROVIDER: S-EPMC6733517 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Franconi Colleen P CP McDonald-McGinn Donna D Zackai Elaine H EH McNamara Meghan A MA Salmons Harold H Moss Edward E Gur Raquel E RE Devoto Marcella M Emanuel Beverly S BS
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 20160913 8
22q11.2 Deletion Syndrome (22q11DS) is a multisystem disorder caused by a hemizygous deletion within 22q11.2. Patients with the deletion display a wide range of cognitive deficits. The gene catechol-O-methyl-transferase (COMT) resides in the typically deleted region of 22q11.2 and is rendered hemizygous in individuals affected by the 22q11DS. COMT is a critical enzyme in the degradation of catecholamine neurotransmitters in the brain. A functional polymorphism, Val<sup>158</sup> Met, has been as ...[more]