Journal
CLINICAL GENETICS
Volume 69, Issue 3, Pages 234-238Publisher
WILEY-BLACKWELL
DOI: 10.1111/j.1399-0004.2006.00569.x
Keywords
chromosome 22q11.2 deletion syndrome; COMT polymorphism; DiGeorge syndrome; schizophrenia; velocardiofacial syndrome
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Funding
- NIMH NIH HHS [1-R03-MH67194-01-A2] Funding Source: Medline
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Chromosome 22q11.2 deletion syndrome (22q11DS) is a common microdeletion syndrome associated with a markedly elevated risk of schizophrenia in adulthood. Cognitive impairments such as a low IQ and deficits in attention and executive function are common in childhood. The catechol O-methyltransferase (COMT) gene maps within the deleted region and is involved in the degradation of dopamine, a neurotransmitter thought to be important in cognition and the development of schizophrenia. Thus, we examined the correlation between neurocognitive deficits and a common polymorphism Val(158)Met in the COMT gene in a cohort of children with 22q11DS. Our results show that children with 22q11DS who have the Met allele have higher IQ and achievement scores and perform better on measures of prefrontal cognition, such as the Continuous Performance Task, as compared with those with the Val allele. These results confirm that the hemizygous COMT Val(158)Met genotype impacts upon cognition in children with 22q11DS.
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