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Despite decades of research demonstrating that Tourette syndrome (TS) has one of the highest familial recurrence rates among non-Mendelian neuropsychiatric diseases, the search for the underlying genetic causes of TS has remained elusive. Examination of affected sibling pairs and large, multigenerational TS pedigrees have implicated a locus on chromosome 2p23, and analyses of chromosomal translocations have identified additional candidate TS susceptibility genes (SLITRK1 and CNTNAP2), though these findings remain controversial.1
New methods for microarray-based genotyping of single nucleotide polymorphism (SNP) markers as well as parallel methods for assessing rare and common DNA deletions or duplications across the genome (i.e., copy number variants [CNVs]) have permitted breakthrough identification of susceptibility genes for many non-Mendelian diseases.2,3 Recently, these discoveries have extended into the realm of neurodevelopmental disorders.4,5 An emerging theme in the genetics of neurodevelopmental disorders has been the observation that the same large (>100 kb) deletions/duplications at specific loci throughout the genome (1q21.1, 2p16.3, 15q13.3, 16p11.2, 22q11, for example) appear to be present in patients with a wide range of neurodevelopmental phenotypes including autism, developmental disability, schizophrenia, attention deficit hyperactivity disorder (ADHD), and seizures. Such findings, in turn, advance the hypothesis that many susceptibility genes for neurodevelopmental disorders may not be risk …
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