IQ and hemizygosity for the Val158Met functional polymorphism of COMT in 22q11DS.
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, Val158Met, 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 differences between average, borderline, and intellectually impaired patients. No correlation between COMT genotype and IQ performance was found. © 2016 Wiley Periodicals, Inc.
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Colleen P
CP
Franconi
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Donna
D
McDonald-McGinn
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Elaine H
EH
Zackai
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Meghan A
MA
McNamara
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Harold
H
Salmons
Malamut and Moss, Bryn Mawr, Pennsylvania.
Edward
E
Moss
Department of Psychiatry, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Raquel E
RE
Gur
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.|Department of Biostatistics and Epidemiology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.|Department of Molecular Medicine, University La Sapienza, Roma, Italy.
Marcella
M
Devoto
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Beverly S
BS
Emanuel
D058165:22q11 Deletion Syndrome / Q000235:genetics* / Q000378:metabolism; D000293:Adolescent; D002394:Catechol O-Methyltransferase / Q000235:genetics* / Q000378:metabolism*; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D003071:Cognition; D003072:Cognition Disorders / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D020022:Genetic Predisposition to Disease; D057898:Hemizygote; D006801:Humans; D007361:Intelligence Tests; D008297:Male; D008715:Methionine / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D014633:Valine / Q000235:genetics; D055815:Young Adult
D008715:Methionine; C588010:COMT protein, human; D002394:Catechol O-Methyltransferase; D014633:Valine
22q11.2 deletion syndrome; COMT; velocardiofacial syndrome