Speech Pathology and Audiology Commons^™

A Gender-Moderated Effect Of A Functional Comt Polymorphism On Prefrontal Brain Morphology And Function In Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome), Wendy R. Kates, Kevin M. Antshel, Nuria Abdulsabur, Deirdre Colgan, Birgit Funke, Wanda Fremont, Anne Marie Higgins, Raju Kucherlapati, Robert J. Shprintzen

Communication Disorders Faculty Publications

Caused by a microdeletion at the q11.2 locus of chromosome 22, velo-cardio-facial syndrome (also known as VCFS, 22q11 deletion syndrome, DiGeorge sequence, and conotruncal anomalies face syndrome) is associated with a distinctive physical, neurocognitive, and psychiatric phenotype. Increasing interest has centered on identifying the candidate genes within the deleted region that may contribute to this phenotype. One attractive candidate gene is catechol-O-methyltransferase (COMT) because it encodes for a protein that degrades dopamine. Variability in COMT activity is related to a Val158Met polymorphism that has been implicated in prefrontal lobe cognitive and neuropsychiatric function. We examined the effect …