GENETIC RISK FACTOR FOR NEURODEVELOPMENTAL DISORDERS AND THEIR COMPLICATIONS

摘要

The present invention relates to an isolated nucleic acid molecule that has been found to be implied in the susceptibility of an individual to neurodevelopmental disorders, in particular psychiatric-neurodevelopmental disorders, such as schizophrenia, autism, Attention-deficit hyperactivity disorder (ADHD) , dyslexia, Rett's disorder and Asperger's, specifically schizophrenia, autism, Attention-deficit hyperactivity disorder (ADHD) and dyslexia, and in complications thereof, in particular epilepsy and depression, and to the protein encoded by the nucleic acid. Specifically, the present invention relates to an isolated nucleic acid molecule comprising a variant of the human Aph-1b gene as depicted in Fig. 1 that causes the amino acid residue in position 217 of the encoded Aph-1b to be an aliphatic amino acid, in particular a leucine.