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| ABNORMAL-BEHAVIOR ASSOCIATED WITH A POINT MUTATION IN THE STRUCTURAL GENE FOR MONOAMINE OXIDASE-A |
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| Author(s): BRUNNER HG, NELEN M, BREAKEFIELD XO, ROPERS HH, VANOOST BA |
| Source: SCIENCE Volume: 262 Issue: 5133 Pages: 578-580 Published: OCT 22 1993 |
| Times Cited: 580 References: 43 |
| 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: BRUNNER, HG (reprint author), UNIV HOSP NIJMEGEN, DEPT HUMAN GENET, GEERT GROOTEPLEIN 20, 6525 GA NIJMEGEN, NETHERLANDS |
Addresses:
1. UNIV HOSP NIJMEGEN, DEPT HUMAN GENET, 6500 HB NIJMEGEN, NETHERLANDS
2. MASSACHUSETTS GEN HOSP, CTR NEUROSCI, BOSTON, MA 02129 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: MC935 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |