LETTER TO JMG

The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism

D Castermans¹, V Wilquet¹, E Parthoens¹, C Huysmans¹, J Steyaert^2,3,5, L Swinnen⁴, J-P Fryns², W Van de Ven¹, K Devriendt²

¹ Department of Human Genetics, Division of Molecular Oncology, University of Leuven, Belgium
² Centre for Human Genetics, Division of Clinical Genetics, University of Leuven, Belgium
³ Department of Children’s Psychiatry, University of Leuven, Belgium
⁴ Child and Adolescent Psychiatrist, Neerpelt, Belgium
⁵ Centre for Clinical Genetics, University of Maastricht, The Netherlands.

Correspondence to:
Correspondence to:
Dr K Devriendt, Centre for Human Genetics, Herestraat 49, B-3000 Leuven, Belgium;
koenraad.devriendt@uz.kuleuven.ac.be

Keywords: autism; neurobeachin; positional cloning; translocation

The first 150 words of the full text of this article appear below.

Autism is a developmental disorder characterised by a triad of clearly abnormal or impaired development in social interaction and communication, and a markedly restricted repertoire of activity and interests.¹ Its incidence is estimated at about 1/1000 to 1/2000.² Different metabolic and structural brain anomalies have been observed in subjects with autism but these data have not yet led to a single unifying theory on its pathogenesis. In a minority (5–10%) of cases, autism is a symptom of a recognisable disorder such as fragile X syndrome, tuberous sclerosis, or untreated phenylketonuria.³ However, the molecular pathways involved in these disorders have also not contributed to an increased understanding of the pathogenesis of autism. In the majority of cases, the cause of autism is not known but there is strong evidence for a genetic cause. A polygenic inheritance is likely but estimates on the number of interacting genes vary from two to 10.^4,5 . . . [Full text of this article]

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