Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome

Carrie E. Bearden, Abbas F. Jawad, David R. Lynch, John R. Monterossso, Set Sokol, Donna M. McDonald-McGinn, Sulagna C. Saitta, Stacy E. Harris, Edward Moss, Paul P. Wang, Elaine Zackai, Beverly S. Emanuel, Tony J Simon

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

The 22q11.2 Deletion Syndrome (DiGeorge/velocardiofacial syndrome) is associated with elevated rates of psychosis, and is also characterized by severe attentional difficulties and executive dysfunction. Behavioral manifestations of this syndrome could result from haploinsufficiency of the catechol-O-methyltransferase (COMT) gene, located within the 22q11 region. The goal of the present study was to examine COMT genotype in relation to behavioral symptomatology in this syndrome. Val158/108 Met was genotyped in 38 patients (16 Met/-, 22 Val/-) with confirmed 22q11.2 deletions who had received the Child Behavior Checklist (CBCL) as part of a comprehensive evaluation. Results indicated that the Val genotype was associated with significantly greater internalizing and externalizing behavioral symptomatology in children with 22q11.2 deletions. Val allele status was associated with a greater-than-four-fold increase in risk for clinically significant behavior problems in children with this syndrome. These data are consistent with previous findings of increased psychopathology associated with the Val genotype in normal individuals and suggest that a functional genetic polymorphism in the 22q11 region may influence behavior in individuals with COMT haploinsufficiency.

Original languageEnglish (US)
Pages (from-to)109-117
Number of pages9
JournalChild Neuropsychology
Volume11
Issue number1
DOIs
StatePublished - Feb 2005
Externally publishedYes

Fingerprint

DiGeorge Syndrome
Catechol O-Methyltransferase
Haploinsufficiency
Genotype
Child Behavior
Genetic Polymorphisms
Checklist
Psychopathology
Psychotic Disorders
Alleles
Genes

Keywords

  • 22q11.2 deletion
  • Child Behavior Checklist
  • COMT polymorphism
  • Genotype
  • Psychopathology
  • Velocardiofacial syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neuropsychology and Physiological Psychology

Cite this

Bearden, C. E., Jawad, A. F., Lynch, D. R., Monterossso, J. R., Sokol, S., McDonald-McGinn, D. M., ... Simon, T. J. (2005). Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Child Neuropsychology, 11(1), 109-117. https://doi.org/10.1080/09297040590911239

Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. / Bearden, Carrie E.; Jawad, Abbas F.; Lynch, David R.; Monterossso, John R.; Sokol, Set; McDonald-McGinn, Donna M.; Saitta, Sulagna C.; Harris, Stacy E.; Moss, Edward; Wang, Paul P.; Zackai, Elaine; Emanuel, Beverly S.; Simon, Tony J.

In: Child Neuropsychology, Vol. 11, No. 1, 02.2005, p. 109-117.

Research output: Contribution to journalArticle

Bearden, CE, Jawad, AF, Lynch, DR, Monterossso, JR, Sokol, S, McDonald-McGinn, DM, Saitta, SC, Harris, SE, Moss, E, Wang, PP, Zackai, E, Emanuel, BS & Simon, TJ 2005, 'Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome', Child Neuropsychology, vol. 11, no. 1, pp. 109-117. https://doi.org/10.1080/09297040590911239
Bearden CE, Jawad AF, Lynch DR, Monterossso JR, Sokol S, McDonald-McGinn DM et al. Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Child Neuropsychology. 2005 Feb;11(1):109-117. https://doi.org/10.1080/09297040590911239
Bearden, Carrie E. ; Jawad, Abbas F. ; Lynch, David R. ; Monterossso, John R. ; Sokol, Set ; McDonald-McGinn, Donna M. ; Saitta, Sulagna C. ; Harris, Stacy E. ; Moss, Edward ; Wang, Paul P. ; Zackai, Elaine ; Emanuel, Beverly S. ; Simon, Tony J. / Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. In: Child Neuropsychology. 2005 ; Vol. 11, No. 1. pp. 109-117.
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