ArticleBMC medical genetics2012
Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.
Article in BMC medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 35 citations in OpenAlex.
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- Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature.Movement disorders clinical practice · 2023Review
- Molecular Landscape of Tourette's Disorder.International journal of molecular sciences · 2023Article
- De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.Human genomics · 2022Article
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- Genomic Chaos Begets Psychiatric Disorder.Complex psychiatry · 2020Review
- A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short-lived infant.Journal of clinical laboratory analysis · 2020Article
- Chronic Voluntary Ethanol Drinking in Cynomolgus Macaques Elicits Gene Expression Changes in Prefrontal Cortical Area 46.Alcoholism, clinical and experimental research · 2020Article
- Progress in Genetic Studies of Tourette's Syndrome.Brain sciences · 2017Review
- Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways.Translational psychiatry · 2016Article
- Tourette Syndrome: Bridging the Gap between Genetics and Biology.Molecular neuropsychiatry · 2015Article
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
- Defining the Human Brain Proteome Using Transcriptomics and Antibody-Based Profiling with a Focus on the Cerebral Cortex.PloS one · 2015Article
- The Inheritance of Tourette Disorder: A review.Journal of obsessive-compulsive and related disorders · 2014Article
- An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder.PloS one · 2014Article
- Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Molecular cytogenetics · 2014Article
- Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.Neurogenetics · 2013Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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