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Keywords:

  • genetics;
  • Gilles de la Tourette syndrome;
  • microdeletion syndrome;
  • neurobehaviour;
  • psychopathology;
  • Smith–Magenis syndrome

Abstract

This is the first published case description in the current literature of the association of definite Gilles de la Tourette syndrome (GTS) and the Smith–Magenis syndrome (SMS), both confirmed by DSM-IV-TR criteria and molecular cytogenetic analysis, respectively. The co-occurrence of GTS, SMS and their common behavioural/neuropsychiatric abnormalities should warrant further genetic investigation of chromosome 17p11.2 deletion site as it may be a promising region for containing a gene(s) of aetiological importance in the development of the GTS phenotype. Alternatively, the co-occurrence may be due to the common endophenotypic mechanisms shared by these disorders, rather than being specific for GTS that could be explored using strategies of quantitative trait loci – endophenotype-based approach. Research into this genomic region may also benefit psychiatric genetic research in enhancing understanding of the biological and molecular underpinnings of common behavioural problems that are seen in both GTS and SMS. This would lead to advancement in neurobehavioural/neuropsychiatric genetics which will help in further explaining the broader perspective of gene–brain–behaviour interrelationships.