Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.
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.
Brunner
H G
HG
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Nelen
M
M
Breakefield
X O
XO
Ropers
H H
HH
van Oost
B A
BA
D000374:Aggression; D002460:Cell Line; D002478:Cells, Cultured; D005260:Female; D005796:Genes; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008995:Monoamine Oxidase / Q000172:deficiency / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012867:Skin / Q000201:enzymology; D013577:Syndrome; D014960:X Chromosome
D008995:Monoamine Oxidase