Association of GTF2i in the Williams-Beuren Syndrome critical region with autism spectrum disorders

Journal of Autism and Developmental Disorders

Volumn 42, Issue 7, 2012, Pages 1459-1469

  Malenfant, Patrick ^a,b,c   Liu, Xudong ^a,b,c   Hudson, Melissa L ^a,b,c   Qiao, Ying ^c,d,e   Hrynchak, Monica ^f   Riendeau, Noémie ^c,e   Hildebrand, M Jeannette ^c,e   Cohen, Ira L ^c,g   Chudley, Albert E ^c,h   Forster Gibson, Cynthia ^a,c   Mickelson, Elizabeth C R ^c,d   Rajcan Separovic, Evica ^c,d   Lewis, M E Suzanne ^c,e   Holden, Jeanette J A ^a,b,c,i  

^a QUEEN S UNIVERSITY   (Canada)

^b Ongwanada Resource Centre   (Canada)

^c Autism Spectrum Disorders Canadian American Research Consortium   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^f ROYAL COLUMBIAN HOSPITAL   (Canada)

^g NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^h UNIVERSITY OF MANITOBA   (Canada)

ⁱ QUEEN S UNIVERSITY   (Canada)

Author keywords

7q11.23 duplication; Autism spectrum disorders (ASDs); Gene association; GTF2i gene; Williams Beuren syndrome (WBS)

Indexed keywords

ALLELE; ANXIETY DISORDER; ARTICLE; AUTISM; CHROMOSOME 7Q; COMPULSION; CYLN2 GENE; GENE; GENE DELETION; GENE DUPLICATION; GENETIC ASSOCIATION; GENETIC SCREENING; GTF2I GENE; HAPLOTYPE; HUMAN; LANGUAGE DISABILITY; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOCIAL INTERACTION; STX1A GENE; WILLIAMS BEUREN SYNDROME;

5' UNTRANSLATED REGIONS; ALLELES; ANXIETY DISORDERS; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 7; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; GENETIC TESTING; HETEROZYGOTE DETECTION; HUMANS; INTERPERSONAL RELATIONS; LANGUAGE DEVELOPMENT DISORDERS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; STEREOTYPED BEHAVIOR; TRANSCRIPTION FACTORS, TFII; WILLIAMS SYNDROME;

EID: 84863864680     PISSN: 01623257     EISSN: 15733432     Source Type: Journal    
DOI: 10.1007/s10803-011-1389-4     Document Type: Article

References (48)

1. American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders: DSM-IV) (4th ed.). Washington, DC: American Psychiatric Association.
2. Beckman, M. L., Bernstein, E. M., & Quick, M. W. (1998). Protein kinase C regulates the interaction between a GABA transporter and syntaxin 1A. The Journal of Neuroscience, 18, 6103-6112. (Pubitemid 28373219)
3. Benjamini, Y., & Hochberg, Y. (1995). Controlling the false discovery rate: A practical and powerful approach to multiple testing. Journal of the Royal Statistical Society, Series B (Methodological), 57, 289-300.
4. Berg, J. S., Brunetti-Pierri, N., Peters, S. U., Kang, S. H., Fong, C. T., Salamone, J., et al. (2007). Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genetics in Medicine, 9, 427-441. (Pubitemid 47222135)
5. Beunders, G., van de Kamp, J. M., Veenhoven, R. H., van Hagen, J. M., Nieuwint, A. W., & Sistermans, E. A. (2010). A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms. Journal of Medical Genetics, 47, 271-275.
6. Bragina, L., Giovedi, S., Barbaresi, P., Benfenati, F., & Conti, F. (2010). Heterogeneity of glutamatergic and GABAergic release machinery in cerebral cortex: analysis of synaptogyrin, vesicle-associated membrane protein, and syntaxin. Neuroscience, 165, 934-943.
7. Brock, J. (2007). Language abilities in Williams syndrome: A critical review. Development and Psychopathology, 19, 97-127.
8. Cohen, I. L. (2003). Criterion-related validity of the PDD Behavior Inventory. Journal of Autism Developmental Disorder, 33, 47-53.
9. Cohen, I. L., Schmidt-Lackner, S., Romanczyk, R., & Sudhalter, V. (2003). The PDD behavior inventory: A rating scale for assessing response to intervention in children with pervasive developmental disorder. Journal of Autism Developmental Disorder, 33, 31-45. (Pubitemid 36323138)
10. Dai, L., Bellugi, U., Chen, X. N., Pulst-Korenberg, A. M., Jarvinen-Pasley, A., Tirosh-Wagner, T., et al. (2009). Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays. American Journal of Medical Genetics Part A, 149A, 302-314.
11. Depienne, C., Heron, D., Betancur, C., Benyahia, B., Trouillard, O., Bouteiller, D., et al. (2007). Autism, language delay and mental retardation in a patient with 7q11 duplication. Journal of Medical Genetics, 44, 452-458. (Pubitemid 47056872)
12. Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., et al. (2007). Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nature Genetics, 39, 25-27. (Pubitemid 46026497)
13. Edelman, E. A., Girirajan, S., Finucane, B., Patel, P. I., Lupski, J. R., Smith, A. C., et al. (2007). Gender, genotype, and phenotype differences in Smith-Magenis syndrome: A meta-analysis of 105 cases. Clinical Genetics, 71, 540-550. (Pubitemid 46831948)
14. Edelmann, L., Prosnitz, A., Pardo, S., Bhatt, J., Cohen, N., Lauriat, T., et al. (2007). An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. Journal of Medical Genetics, 44, 136-143.
15. Francke, U. (1999). Williams-Beuren syndrome: genes and mechanisms. Human Molecular Genetics, 8, 1947-1954.
16. Geschwind, D. H., Sowinski, J., Lord, C., Iversen, P., Shestack, J., Jones, P., et al. (2001). The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. American Journal of Human Genetics, 69, 463-466. (Pubitemid 32695220)
17. Hakimi, M. A., Dong, Y., Lane, W. S., Speicher, D. W., & Shiekhattar, R. (2003). A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes. Journal of Biological Chemistry, 278, 7234-7239. (Pubitemid 36800724)
18. Hakre, S., Tussie-Luna, M. I., Ashworth, T., Novina, C. D., Settleman, J., Sharp, P. A., et al. (2006). Opposing functions of TFII-I spliced isoforms in growth factor-induced gene expression. Molecular Cell, 24, 301-308. (Pubitemid 44557127)
19. Hamdan, F. F., Piton,A., Gauthier, J., Lortie, A., Dubeau, F., Dobrzeniecka, S., et al. (2009). De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Ann.Neurol., 65, 748-753.
20. Jacquemont, M. L., Sanlaville, D., Redon, R., Raoul, O., Cormier- Daire, V., Lyonnet, S., et al. (2006). Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. Journal of Medical Genetics, 43, 843-849. (Pubitemid 44787109)
21. Jones, W., Bellugi, U., Lai, Z., Chiles, M., Reilly, J., Lincoln, A., et al. (2000). II. Hypersociability in Williams syndrome. Journal of Cognitive Neuroscience, 12(Suppl 1), 30-46. (Pubitemid 30410263)
22. Kirchhoff, M., Bisgaard, A. M., Bryndorf, T., & Gerdes, T. (2007). MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. European Journal of Medical Genetics, 50, 33-42. (Pubitemid 46110981)
23. Kriek, M., White, S. J., Szuhai, K., Knijnenburg, J., van Ommen, G. J., den Dunnen, J. T., et al. (2006). Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. European Journal of Human Genetics, 14, 180-189. (Pubitemid 43135861)
24. Laird, N. M., Horvath, S., & Xu, X. (2000). Implementing a unified approach to family-based tests of association. Genetic Epidemiology, 19(Suppl 1), S36-S42.
25. Levitin, D. J., Cole, K., Lincoln, A., & Bellugi, U. (2005). Aversion, awareness, and attraction: investigating claims of hyperacusis in the Williams syndrome phenotype. Journal of Child Psychology and Psychiatry, 46, 514-523. (Pubitemid 40614095)
26. Liu, X., Novosedlik, N., Wang, A., Hudson, M. L., Cohen, I. L., Chudley, A. E., et al. (2009). The DLX1and DLX2 genes and susceptibility to autism spectrum disorders. European Journal of Human Genetics, 17, 228-235.
27. Lord, C., Rutter, M., & Le, C. A. (1994). Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism Developmental Disorder, 24, 659-685. (Pubitemid 24309810)
28. Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Jr., Leventhal, B. L., DiLavore, P. C., et al. (2000). The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism Developmental Disorder, 30, 205-223.
29. Makeyev, A. V., & Bayarsaihan, D. (2009). Alternative splicing and promoter use in TFII-I genes. Gene, 433, 16-25.
30. McDougle, C. J., Erickson, C. A., Stigler, K. A., & Posey, D. J. (2005). Neurochemistry in the pathophysiology of autism. Journal of Clinical Psychiatry, 66(Suppl 10), 9-18. (Pubitemid 43133209)
31. Merla, G., Brunetti-Pierri, N., Micale, L., & Fusco, C. (2010). Copy number variants at Williams-Beuren syndrome 7q11.23 region. Human Genetics, 128, 3-26.
32. Merritt, J. L., & Lindor, N. M. (2008). Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly. American Journal of Medical Genetics, 146A, 1055-1058.
33. Orellana, C., Bernabeu, J., Monfort, S., Rosello, M., Oltra, S., Ferrer, I., et al. (2008). Duplication of the Williams-Beuren critical region: Case report and further delineation of the phenotypic spectrum. Journal of Medical Genetics, 45, 187-189. (Pubitemid 351373750)
34. Osborne, L. R., & Mervis, C. B. (2007). Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development. Expert Reviews in Molecular Medicine, 9, 1-16. (Pubitemid 46979494)
35. Ott, J. (1999). Methods of analysis and resources available for genetic trait mapping. Journal of Heredity, 90, 68-70.
36. Perez Jurado, L. A., Peoples, R., Kaplan, P., Hamel, B. C., & Francke, U. (1996). Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. American Journal of Human Genetics, 59, 781-792. (Pubitemid 26328073)
37. Rajcan-Separovic, E., Harvard, C., Liu, X., McGillivray, B., Hall, J. G., Qiao, Y., et al. (2007). Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1. Journal of Medical Genetics, 44, 269-276. (Pubitemid 46596440)
38. Schuyler, S. C., & Pellman, D. (2001). Microtubule "plus-endtracking proteins": The end is just the beginning. Cell, 105, 421-424. (Pubitemid 32520848)
39. Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., et al. (2007). Strong association of de novo copy number mutations with autism. Science, 316, 445-449. (Pubitemid 46651493)
40. Somerville, M. J., Mervis, C. B., Young, E. J., Seo, E. J., del Campo, M., Bamforth, S., et al. (2005). Severe expressive-language delay related to duplication of the Williams-Beuren locus. New England Journal of Medicine, 353, 1694-1701. (Pubitemid 41464708)
41. Stein, A., Weber, G., Wahl, M. C., & Jahn, R. (2009). Helical extension of the neuronal SNARE complex into the membrane. Nature, 460, 525-528.
42. Sudhof, T. C. (2000). The synaptic vesicle cycle revisited. Neuron, 28, 317-320.
43. Torniero, C., B. B., dalla., Novara, F., Vetro, F., Ricco, I., Darra, F., et al. (2007). Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus. European Journal of Human Genetics, 15, 62-67.
44. Torniero, C., dalla, B. B., Novara, F., Cerini, R., Bonaglia, C., Pramparo, T., et al. (2008). Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. European Journal of Human Genetics, 16, 880-887.
45. Tyson, C., Harvard, C., Locker, R., Friedman, J. M., Langlois, S., Lewis, M. E., et al. (2005). Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. American Journal of Medical Genetics Part A, 139, 173-185. (Pubitemid 41740587)
46. Van der Aa, N., Rooms, L., Vandeweyer, G., van den Ende, J., Reyniers, E., Fichera, M., et al. (2009). Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. European Journal of Medical Genetics, 52, 94-100.
47. Vorstman, J. A., Staal, W. G., van Daalen E., van Engeland, H., Hochstenbach, P. F., & Franke, L. (2006). Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Molecular Psychiatry, 11(1), 1-18, 28.
48. Yu, Y. X., Shen, L., Xia, P., Tang, Y. W., Bao, L., & Pei, G. (2006). Syntaxin 1A promotes the endocytic sorting of EAAC1 leading to inhibition of glutamate transport. Journal of Cell Science, 119, 3776-3787. (Pubitemid 44614430)