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Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A

H. G. Brunner, M. Nelen, X. O. Breakefield, H. H. Ropers and B. A. van Oost
Science
New Series, Vol. 262, No. 5133 (Oct. 22, 1993), pp. 578-580
Stable URL: http://www.jstor.org/stable/2882585
Page Count: 3
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Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A
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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.

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