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© 1994 Oxford University Press

OTHER

Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity

Markus M. Nöthen*, Sven Cichon, Susanne Hemmer, Johannes Hebebrand1, Helmut Remschmidt1, Gerd Lehmkuhl2, Fritz Poustka3, Martin Schmidt4, Marco Catalano5, Rolf Fimmers6, Judith Kömer7, Marcella Rletschel7 and Peter Propping

Institute of Human Genetics, University of Bonn WilhelmstraBe 31, 53111 Bonn 1Department of Child and Adolescent Psychiatry, University of Marburg 2Department of Child and Adolescent Psychiatry, University of Cologne 3Department of Child and Adolescent Psychiatry, University of Frankfurt/Main 4Department of Child and Adolescent Psychiatry, Zentralinstitut für Seelische Gesundheit, Mannheim Germany 5Psychiatric Branch, Department of Neuropsychiatric Sciences, University of Milan Medical School Milan, Italy 6Institute for Medical Statistics, University of Bonn Bonn, Germany 7Department of Psychiatry, University of Bonn Bonn, Germany

*To whom correspondence should be addressed

Received August 12, 1994; Accepted October 4, 1994

We report a null mutation in the first exon of the human dopamlne D4 receptor (DRD4) gene. The mutation Is predicted to result in a truncated non-functional protein and is the first natural nonsense mutation found In a human dopamlne receptor gene. It occurs with a frequency of about 2% in the general population. The distribution of the mutation was found to be similar In healthy controls and patients suffering from psychiatric diseases which included schizophrenia, bipolar affective disorder and Tourette's syndrome, indicating that heterozygosity for this mutation in the DRD4 gene is not causally related to major psychiatric diseases. We also Identified an adult male who Is homozygous for this mutation. He shows no symptoms of major psychiatric illness, but he displays somatic ailments Including acousticous neurInoma, obesity and some disturbances of the autonomic nervous system. Some of these symptoms might be related to the absence of functional DRD4 protein.


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