Article
Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes.
Psychiatric genetics - 1 Dec 2014
Radoeva Petya D, Coman Ioana L, Salazar Cynthia A, Gentile Karen L, Higgins Anne Marie, Middleton Frank A, Antshel Kevin M, Fremont Wanda, Shprintzen Robert J, Morrow Bernice E, Kates Wendy R
Abstract excerpt
Velocardiofacial (VCFS; 22q11.2 deletion) syndrome is a genetic disorder that results from a hemizygous deletion of the q11.2 region on chromosome 22, and is associated with greatly increased risk for psychiatric disorders, including autism spectrum disorder (ASD) and schizophrenia. There is emerging evidence for the involvement of catechol-O-methyltransferase (COMT) and proline dehydrogenase (oxidase) 1 (PRODH)...
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