IQ and hemizygosity for the Val¹⁵⁸ Met functional polymorphism of COMT in 22q11DS.

ABSTRACT: 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, Val¹⁵⁸ Met, has been associated with a variety of neurocognitive outcomes. In this study, 159 patients with 22q11DS were analyzed for a potential association between intelligence quotient (IQ) and COMT genotype. We performed a univariate analysis for overall influence and modified our analysis to focus on possible differe

SUBMITTER: Franconi CP 

PROVIDER: S-EPMC6733517 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature