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Article

IQ and hemizygosity for the Val158 Met functional polymorphism of COMT in 22q11DS.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Dec 2016

Franconi Colleen P, McDonald-McGinn Donna, Zackai Elaine H, McNamara Meghan A, Salmons Harold, Moss Edward, Gur Raquel E, Devoto Marcella, Emanuel Beverly S

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27619075
DOI: 10.1002/ajmg.b.32492
PMCID: PMC6733517

Genes

COMT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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