Abstract
BackgroundTourette Syndrome (TS) is a neuropsychiatric disorder in children characterized by motor and verbal tics. Although several genes have been suggested in the etiology of TS, the genetic mechanisms remain poorly understood.MethodsUsing cytogenetics and FISH analysis, we identified an apparently balanced t(6,22)(q16.2;p13) in a male patient with TS and obsessive-compulsive disorder (OCD). In order to map the breakpoints and to identify additional submicroscopic rearrangements, we performed whole genome mate-pair sequencing and CGH-array analysis on DNA from the proband.ResultsSequence and CGH array analysis revealed a 400 kb deletion located 1.3 Mb telomeric of the chromosome 6q breakpoint, which has not been reported in controls. The deletion affects three genes (GPR63, NDUFA4 and KLHL32) and overlaps a region previously found deleted in a girl with autistic features and speech delay. The proband’s mother, also a carrier of the translocation, was diagnosed with OCD and shares the deletion. We also describe a further potentially related rearrangement which, while unmapped in Homo sapiens, was consistent with the chimpanzee genome.ConclusionsWe conclude that genome-wide sequencing at relatively low resolution can be used for the identification of submicroscopic rearrangements. We also show that large rearrangements may escape detection using standard analysis of whole genome sequencing data. Our findings further provide a candidate region for TS and OCD on chromosome 6q16.
Highlights
Tourette Syndrome (TS) is a neuropsychiatric disorder in children characterized by motor and verbal tics
Notable examples are the combination of cytogenetic and molecular approaches that led to the identification of the SLIT and NTRK-like family member 1 SLITRK1 [12], inner mitochondrial membrane peptidase 2 like (IMMP2L) [13] and contactin associated proteinlike 2 (CNTNAP2) [14] genes
We first generated a list of single nucleotide variants (SNVs) that were supported by at least 3 sequence reads
Summary
Tourette Syndrome (TS) is a neuropsychiatric disorder in children characterized by motor and verbal tics. Tourette syndrome (TS) is a spectrum of developmental neuropsychiatric disorders characterized by persistent involuntary motor and vocal tics. A shared genetic mechanism is supported by family studies showing a vertical transmission for both disorders [6]. In patients with both disorders, symptoms from OCD may precede the tics but the OC symptoms usually culminate a few years after the worst period of tics [7]. As for tics, early onset comorbid OC symptoms decline with age and may go into remission suggesting a similar course for the two disorders [8]. The latter work describes a 6q21 translocation, while the location of the former is not known
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
