Brunner H G, Nelen M, Breakefield X O, Ropers H H, van Oost B A
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Science. 1993 Oct 22;262(5133):578-80. doi: 10.1126/science.8211186.
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.
对一个大家族进行了遗传和代谢研究，该家族中有几名男性患有边缘智力迟钝和异常行为综合征。出现的行为类型包括冲动攻击、纵火、强奸未遂和露阴癖。对24小时尿液样本的分析表明单胺代谢明显紊乱。该综合征与单胺氧化酶A（MAOA）的酶活性完全和选择性缺乏有关。在五名受影响的男性中，每人均在MAOA结构基因的第八外显子中鉴定出一个点突变，该突变将谷氨酰胺变为终止密码子。因此，这个家族中孤立的完全MAOA缺乏与一种可识别的行为表型有关，该表型包括冲动攻击调节紊乱。
