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PMID:8211186
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| Citation |
Brunner, HG, Nelen, M, Breakefield, XO, Ropers, HH and van Oost, BA (1993) Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262:578-80 |
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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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| Keywords |
Aggression; Cell Line; Cells, Cultured; Female; Genes; Humans; Intellectual Disability/enzymology; Intellectual Disability/genetics; Male; Monoamine Oxidase/deficiency; Monoamine Oxidase/genetics; Pedigree; Phenotype; Point Mutation; Skin/enzymology; Syndrome; X Chromosome |
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