Citation

Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. Science 1993; 262(5133): 578-580.

Affiliation

Department of Human Genetics, University Hospital Nijmegen, The Netherlands.

Copyright

(Copyright © 1993, American Association for the Advancement of Science)

DOI

unavailable

PMID

8211186

Abstract

Genetic and metabolic studies have been done on a large kindred in which several males are affected by a syndrome of borderline mental retardation and abnormal behavior. The types of behavior that occurred include impulsive aggression, arson, attempted rape, and exhibitionism. Analysis of 24-hour urine samples indicated markedly disturbed monoamine metabolism. This syndrome was associated with a complete and selective deficiency of enzymatic activity of monoamine oxidase A (MAOA). In each of five affected males, a point mutation was identified in the eighth exon of the MAOA structural gene, which changes a glutamine to a termination codon. Thus, isolated complete MAOA deficiency in this family is associated with a recognizable behavioral phenotype that includes disturbed regulation of impulsive aggression.

Language: en