Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication.
- Authors
- Clarke, Raymond A; Fang, Zhi Ming; Diwan, Ashish D; Gilbert, Donald L
- Year
- 2009
- Journal
- Case reports in medicine
- PMID
- 20069037
- DOI
- 10.1155/2009/361518
- PMCID
- PMC2797364
This is the first case description of the association of Klippel-Feil Syndrome (KFS), Tourette Syndrome (TS), Motor Stereotypies, and Obsessive Compulsive Behavior, with chromosome 22q11.2 Duplication Syndrome (22q11DupS). Neuropsychiatric symptoms in persons with 22q11.2 deletion, including obsessive compulsiveness, anxiety, hyperactivity, and one prior case report of TS, have been attributed to low copy number effects on Catechol-O-Methyltransferase (COMT). However, the present unique case of 22q11DupS and TS suggests a more complex relationship, either for low- or high-COMT activity, or for other genes at this locus.
Computed Tomography of the C Spine, with 3D reconstruction, showing Klippel-Feil anomaly comprising of the fusion of multiple cervical and upper thoracic vertebrae.
(a) Nucleotide sequence chromatograms across the COMT G675A haplotype using (i) patient DNA, (ii) patient cDNA, (iii) mRNA/cDNA from a normal control heterozygote. (b) Expression of the COMT G675A variants. COMT amplicons from semiquantitative RT-PCR were visualized on an agarose gel after 33 cycles using β 2-actin and GAPDH (housekeeping genes) as the quantitation control. Lane 1—no cDNA control, lane 2—patient, lane 3 & 4—normal control individuals that were homozygous for the 675G allele.
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External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome. | Scala M et al. | — | 2023 | → |
| Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting. | Saia F et al. | — | 2023 | → |
| [Heterogeneous neuropsychiatric phenotypes in two adult patients with 22q11.2 deletion syndrome (DiGeorge's syndrome): a case for RDoC?] | Praus P et al. | — | 2022 | → |
| <i>LRRTM4</i> Terminal Exon Duplicated in Family with Tourette Syndrome, Autism and ADHD. | Clarke RA et al. | — | 2021 | → |
| Tourette Syndrome Risk Genes Regulate Mitochondrial Dynamics, Structure, and Function. | Clarke RA et al. | — | 2020 | → |
| Episodic Behavioural Regression in an 8-Year-Old Female: Sequelae of 22q11.2 Duplication Syndrome. | Bahji A et al. | — | 2018 | → |
| From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research. | Pagliaroli L et al. | — | 2016 | → |
| MicroRNA Profiling of Neurons Generated Using Induced Pluripotent Stem Cells Derived from Patients with Schizophrenia and Schizoaffective Disorder, and 22q11.2 Del. | Zhao D et al. | — | 2015 | → |
| Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. | McGrath LM et al. | — | 2014 | → |
| Genetics of obsessive-compulsive disorder and related disorders. | Browne HA et al. | — | 2014 | → |
| Tics and shorter stature: should we be looking for an association? | Holleb P et al. | — | 2014 | → |
| CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1. | Nag A et al. | — | 2013 | → |
| The genetic basis of Gilles de la Tourette Syndrome. | Paschou P | — | 2013 | → |
| Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism. | Clarke RA et al. | — | 2012 | → |
| Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. | Fernandez TV et al. | — | 2012 | → |
| The genetics of Tourette syndrome. | Deng H et al. | — | 2012 | → |
| No significant association between Catechol-O-methyl transferase (COMT) -287A/G gene polymorphism and Tourette's syndrome in family-based association study in Chinese Han population. | Liu S et al. | — | 2011 | → |
| The genetics of Tourette disorder. | State MW | — | 2011 | → |