Translocation breakpoint at 7q31 associated with tics: Further evidence for IMMP2L as a candidate gene for Tourette syndrome

European Journal of Human Genetics

Volumn 19, Issue 6, 2011, Pages 634-639

  Patel, Chirag ^a   Cooper Charles, Lisa ^a   McMullan, Dominic J ^a   Walker, Judith M ^a   Davison, Val ^a   Morton, Jenny ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

7q31.1 region; array CGH; breakpoint mapping; FOXP2; IMMP2L; Tourette syndrome

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR FOXP2; TRANSMEMBRANE CONDUCTANCE REGULATOR;

7Q31 GENE; ADULT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CISTERNA MAGNA; COMPARATIVE GENOMIC HYBRIDIZATION; DYSPRAXIA; GENE; GENE DELETION; GENE TRANSLOCATION; GENETIC ASSOCIATION; GENETIC CODE; GILLES DE LA TOURETTE SYNDROME; HUMAN; IMMP2L GENE; MALE; MITOCHONDRIAL MEMBRANE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; TIC;

APRAXIAS; CHROMOSOME BREAKPOINTS; CHROMOSOMES, HUMAN, PAIR 7; COMPARATIVE GENOMIC HYBRIDIZATION; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; ENDOPEPTIDASES; EXONS; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; SEQUENCE DELETION; TICS; TOURETTE SYNDROME; TRANSLOCATION, GENETIC;

EID: 79956304666     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.238     Document Type: Article

References (30)

1. Burd L, Kerbeshian J, Wikenheiser M, Fisher W: A prevalence study of Gilles de la Tourette syndrome in North Dakota school-age children. J Am Acad Child Psychiatry 1996; 25: 552-553.
2. Freeman RD, Fast DK, Burd L, Kerbeshian J, Robertson MM, Sandor P: An international perspective on Tourette syndrome: selected findings from 3,500 individuals in 22 countries. Dev Med Child Neurol 2000; 42: 436-447. (Pubitemid 30427051)
3. Pauls DL, Raymond CL, Stevenson JM, Leckman JF: A family study of Gilles de la Tourette syndrome. Am J Hum Genet 1991; 48: 154-163. (Pubitemid 21903038)
4. Tourette Syndrome Association International Consortium for Genetics: Genome scan for Tourette disorder in affected-sibling-pair and multigenerational families. Am J Hum Genet 2007; 80: 265-272.
5. Boghosian-Sell L, Comings DE, Overhauser J: Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3. Am J Hum Genet 1996; 59: 999-1005. (Pubitemid 26346338)
6. Kroisel PM, Petek E, Emberger W, Windpassinger C, Wladika W, Wagner K: Candidate region for Gilles de la Tourette syndrome at 7q31. Am J Med Genet 2001; 101: 259-261. (Pubitemid 32565703)
7. Petek E, Windpassinger C, Vincent JB et al: Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am J Hum Genet 2001; 68: 848-858. (Pubitemid 32289730)
8. De Gregori M, Ciccone R, Magini P et al: Cryptic deletions are a common finding in 'balanced' reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 2007; 44: 750-762. (Pubitemid 350275048)
9. Burri L, Strahm Y, Hawkins CJ et al: Mature DIABLO/Smac is produced by the IMP protease complex on the mitochondrial inner membrane. Mol Biol Cell 2005; 16: 2926-2933. (Pubitemid 40741236)
10. Whatley SA, Curti D, Marchbanks RM: Mitochondrial involvement in schizophrenia and other functional psychoses. Neurochem Res 1996; 21: 995-1004. (Pubitemid 26349764)
11. Graeber MB, Müller U: Recent developments in the molecular genetics of mitochondrial disorders. J Neurol Sci 1998; 153: 251-263. (Pubitemid 28131051)
12. Leonard JV, Schapira AH: Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. Lancet 2000; 355: 389-394.
13. D́az-Anzaldú a A, Joober R, Rivière JB et al: Association between 7q31 markers and Tourette syndrome. Am J Med Genet 2004; 127A: 17-20.
14. Petek E, Schwarzbraun T, Noor A et al: Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome. Mol Genet Genomics 2007; 277: 71-81. (Pubitemid 46018247)
15. Hurst JA, Baraitser M, Auger E, Graham F, Norell S: An extended family with a dominantly inherited speech disorder. Dev Med Child Neurol 1990; 32: 352-355. (Pubitemid 20182238)
16. Lai CS, Fisher SE, Hurst JA et al: The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am J Hum Genet 2000; 67: 357-368. (Pubitemid 30616741)
17. Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP: A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 2001; 413: 519-523. (Pubitemid 32938749)
18. Lennon PA, Cooper ML, Peiffer DA et al: Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am J Med Genet 2007; 143A: 791-798. (Pubitemid 46556164)
19. MacDermot KD, Bonora E, Sykes N et al: Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet 2005; 76: 1074-1080. (Pubitemid 40705441)
20. Maestrini E, Pagnamenta AT, Lamb JA et al: High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2LDOCK4 gene region in autism susceptibility. Mol Psychiatry 2010; 15: 954-968.
21. Elia J, Gai X, Xie HM et al: Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 2010; 15: 637-646.
22. International Molecular Genetic Study of Autism Consortium: A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 1998; 7: 571-578.
23. Hutcheson HB, Bradford Y, Folstein SE et al: Defining the autism minimum candidate gene region on chromosome 7. Am J Med Genet 2003; 117B: 90-96. (Pubitemid 37059367)
24. Ueda S, Fujimoto S, Hiramoto K, Negishi M, Katoh H: Dock4 regulates dendritic development in hippocampal neurons. J Neurosci Res 2008; 86: 3052-3061.
25. Pagnamenta AT, Bacchelli E, de Jonge MV et al: Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biol Psychiatry 2010; 68: 320-328.
26. Matsumoto M, Beltaifa S, Weickert CS et al: A conserved mRNA expression profile of SREB2 (GPR85) in adult human, monkey, and rat forebrain. Brain Res Mol Brain Res 2005; 138: 58-69. (Pubitemid 41032930)
27. Matsumoto M, Straub RE, Marenco S et al: The evolutionarily conserved G proteincoupled receptor SREB2/GPR85 influences brain size, behaviour, and vulnerability to schizophrenia. Proc Natl Acad Sci USA 2008; 105: 6133-6138. (Pubitemid 351758411)
28. Campbell DB, Sutcliffe JS, Ebert PJ et al: A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci USA 2006; 103: 16834-16839. (Pubitemid 44737339)
29. Wassink TH, Piven J, Vieland VJ et al: Evidence supporting WNT2 as an autism susceptibility gene. Am J Med Genet 2001; 105: 406-413. (Pubitemid 32601590)
30. Cheung J, Petek E, Nakabayashi K, Tsui LC, Vincent JB, Scherer SW: Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Genomics 2001; 78: 7-11. (Pubitemid 33043652)