A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome

PLoS ONE

Volumn 7, Issue 10, 2012, Pages

  Porter, Melanie A ^a   Dobson Stone, Carol ^b,c   Kwok, John B J ^b,c   Schofield, Peter R ^b,c   Beckett, William ^d   Tassabehji, May ^d  

^a MACQUARIE UNIVERSITY   (Australia)

^b NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN FUNCTION; CEREBELLUM; CHROMOSOME 7Q; CHROMOSOME 7Q11; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; EXECUTIVE FUNCTION; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GTF2I GENE; GTF2IRD1 GENE; GTF2IRD2 GENE; HAPLOINSUFFICIENCY; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIGENE FAMILY; NEUROPSYCHOLOGICAL TEST; ORBITAL CORTEX; PHENOTYPE; PREFRONTAL CORTEX; WILLIAMS BEUREN SYNDROME;

AMINO ACID SEQUENCE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; COGNITION; EXECUTIVE FUNCTION; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MUSCLE PROTEINS; NUCLEAR PROTEINS; SEQUENCE ALIGNMENT; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS, TFII; WILLIAMS SYNDROME;

EID: 84868277619     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0047457     Document Type: Article

References (67)

1. Bellugi U, Lichtenberger L, Jones W, Lai Z, St. George M, (2000) The neurocognitive profile of Williams syndrome: A complex pattern of strengths and weaknesses. J Cognitive Neurosci 12: 7-29.
2. Mervis CB, Robinson BF, Bertrand J, Morris CA, Klein-Tasman BP, et al. (2000) The Williams syndrome cognitive profile. Brain Cognition 44: 604-628.
3. Pober BR, Dykens EM, (1996) Williams Syndrome: an overview of medical, cognitive, and behavioral features. Child Adolesc Psychiatr Clin N Am 5: 929-43.
4. Williams J, Barrat-Boyes B, Lowe J, (1961) Supravalvar aortic stenosis. Circulation 24: 1311-1381.
5. Tager-Flusberg H, Sullivan K, (2000) A componential view of theory of mind: Evidence from Williams syndrome. Cognition 76: 59-89.
6. Porter MA, Coltheart M, Langdon R, (2008) Theory of Mind in Williams Syndrome Assessed Using a Nonverbal Task. J Autism Dev Disord 38: 806-814.
7. Porter MA, Coltheart M, Langdon R, (2007) The neuropsychological basis of hypersociability in Williams and Down syndrome. Neuropsychologia 45: 2839-2849.
8. Dodd HF, Porter MA, (2009) Psychopathology in Williams Syndrome: The effect of individual differences across the life span. J Ment Health Res Intellect Disabil 2: 89-109.
9. Rae C, Karmiloff-Smith A, Lee MA, Dixon RM, Grant J, et al. (1998) Brain biochemistry in Williams syndrome: Evidence for a role of the cerebellum in cognition. Neurology 51: 33-40.
10. Gothelf D, Searcy YM, Reilly J, Lai PT, Lanre-Amos T, et al. (2008) Association between cerebral shape and social use of language in Williams syndrome. Am J Med Genet 2008 146A: 2753-2761.
11. Reiss AL, Eckert MA, Rose FE, Karchemskiy A, Kesler S, et al. (2004) An experiment of nature: brain anatomy parallels behavior in Williams syndrome. J Neurosci 24: 5009-5015.
12. Eckert MA, Galaburda A, Karchemskiy A, Liang A, Thompson P, et al. (2006) Anomalous sylvian fissure morphology in Williams Syndrome. NeuroImage 33: 39-45.
13. Marenco S, Siuta M, Kippenhan S, Grodowsky S, Chang W, et al. (2007) Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams Syndrome. Proc Natl Acad Sci USA 104: 15117-15122.
14. Meyer-Lindenberg A, Mervis C, Berman K, (2006) Neural mechanisms in Williams syndrome: A unique window to genetic influences on cognition and behavior. Nature Rev Neurosci 7: 380-393.
15. Jackowski AP, Rando K, de Araujo CM, Del Cole CG, Silva I, et al. (2009) Brain abnormalities in Williams syndrome: A review of structural and functional magnetic resonance imaging findings. Eur J Paediatr Neurol 13: 305-316.
16. Stromme P, Bjornstad PG, Ramstad K, (2002) Prevalence estimation of Williams syndrome. J Child Neurol 17: 269-271.
17. Wang MS, Schinzel A, Kotzot D, Balmer D, Casey R, et al. (1999) Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. Am J Med Genet 86: 34-43.
18. Metcalfe K, Simeonov E, Beckett W, Donnai D, Tassabehji M, (2005) Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. Clin Dysmorphol 14: 61-65.
19. Pérez Jurado AL, (2003) Williams-Beuren syndrome: a model of recurrent genomic mutation. Horm Res 59: 106-13.
20. Heller R, Rauch A, Lüttgen S, Schröder B, Winterpacht A, (2003) Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome. J Med Genet 40: 99-104.
21. Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, et al. (2003) GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am J Med Genet 123: 45-59.
22. Tassabehji M, (2003) Williams-Beuren syndrome: A challenge for genotype-phenotype correlations. Hum Molec Genet 12: R229-R237.
23. Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, et al. (1999) Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet 64: 118-125.
24. Ferrero GB, Howald C, Micale L, Biamino E, Augello B, et al. (2010) An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. Eur J Hum Genet 18: 33-38.
25. Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, et al. (2010) Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. J Med Genet 47: 312-20.
26. Meng Y, Zhang Y, Tregoubov V, Janus C, Cruz L, et al. (2002) Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice. Neuron 35: 121-133.
27. Dortland B, Miedema M, van Alphen A, Kistler WM, Jaegle M, et al. (2002) Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice. Nat Genet 32: 116-127.
28. Roy AL, (2006) Transcription factor TFII-I conducts a cytoplasmic orchestra. ACS Chem Biol 1: 619-22.
29. Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, et al. (2005) GTF2IRD1 in craniofacial development of humans and mice. Science 310: 1184-1187.
30. Young EJ, Lipina T, Tam E, Mandel A, Clapcote SJ, et al. (2008) Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice. Genes Brain Behav 7: 224-234.
31. Jarrold C, Baddeley AD, Hewes AK, (1998) Verbal and non-verbal abilities in the Williams syndrome phenotype: Evidence for diverging developmental trajectories. J Child Psychol Psychiatry 39: 511-523.
32. Nakamura M, Hara K, Watamaki T, Nishimurra B, Kumagai T, et al. (1999) Difficulty in writing Japanese semantic characters in a 9-year-old boy with Williams syndrome. J Intellectual Disabil Res 43: 562-567.
33. Pezzini G, Vicari S, Voltera V, Milani L, Ossella MT, (1999) Children with Williams syndrome: Is there a single neuropsychological profile? Dev Neuropsychol 15: 141-155.
34. Thal D, Bates E, Bellugi U, (1989) Language and cognition in two children with Williams syndrome. J Speech Hear Res 32: 489-500.
35. Porter MA, Coltheart M, (2005) Cognitive heterogeneity in Williams syndrome. Dev Neuropsychol 27: 275-306.
36. Porter MA, Coltheart M, (2006) Global and local processing in Williams, autistic and Down syndrome: Perception, attention and construction. Dev Neuropsychol 30: 771-789.
37. Porter MA, Dodd H, Cairns D, (2008) Psychopathological and behavior impairments in Williams-Beuren syndrome: The influence of gender, chronological age and cognition. Child Neuropsychol 15: 359-374.
38. Borg I, Delhanty JD, Baraitserer M, (1995) Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. J Med Genet 32: 692-696.
39. Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG, (1995) Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet 56: 1156-1161.
40. Sagoo GS, Butterworth AS, Sanderson S, Shaw-Smith C, Higgins JP, et al. (2009) Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. Genet Med 11: 139-46.
41. Woodcock RW, Johnson MB, editors. (1989) Woodcock-Johnson psycho-educational battery- revised: Itasca, IL: Riverside Publishing.
42. Nowicki S, Duke MP, (1994) Individual differences in the nonverbal communication of affect: the diagnostic analysis of nonverbal accuracy scale. J Nonverbal Behav 18: 9-35.
43. Espy KA, (1997) The shape school: Assessing executive function in preschool children. Dev Neuropsychol 13: 495-499.
44. Kaufman J, Birmaher B, Brent D, Rao U, Flynn C, et al. (1997) Schedule for affective disorders and schizophrenia for school-age children-present and lifetime version (k-sads-pl): Initial reliability and validity data. J Am Acad Child Adolesc Psychiatry 36: 980-988.
45. Dodd HF, Porter MA, Peters GL, Rapee RM, (2010) Social approach in preschool children with Williams syndrome. J Intellect Disabil Res 54 (3) (): 194-203.
46. Sparrow S, Cicchetti D, Balla D (2005) Vineland Adaptive Behavior Scales. 2nd edition. Minneapolis: Pearson Assessment.
47. Benton AL, Hamsher K, Varney NR, Spreen O (1983) Benton judgment of line orientation test. New York: Oxford University Press.
48. Benton AL, Hamsher K, Varney NR, Spreen O (1983) Benton test of facial recognition. New York: Oxford University Press.
49. Elliot CD (1990) Differential Ability Scales. New York: The Psychological Corporation.
50. Crawford JR, Garthwaite PH, (2005) Testing for suspected impairments and dissociations in single-case studies in neuropsychology: Evaluation of alternatives using Monte Carlo simulations and revised tests for dissociations. Neuropsychology 19: 318-331.
51. Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, et al. (2001) A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 29 (3) (): 321-5.
52. Jones AR, Overly CC, Sunkin SM, (2009) The Allen Brain Atlas: 5 years and beyond. Nature Rev Neurosci 10: 821-828.
53. Barrett T, Troup DB, Wilhite SE, Ledoux P, Evangelista C, et al. (2011) NCBI GEO: archive for functional genomics data sets-10 years on Nucleic Acids Res. 39 (Database issue) (): D1005-10.
54. Su AI, Wiltshire T, Batalov S, Lapp H, Ching KA, et al. (2004) A gene atlas of the mouse and human protein-encoding transcriptomes. Proc Natl Acad Sci USA 101: 6062-6067.
55. Enkhmandakh B, Makeyev AV, Erdenechimeg L, Ruddle FH, Chimge NO, et al. (2009) Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. Proc Natl Acad Sci USA 106: 181-6.
56. Tipney HJ, Hinsley TA, Brass A, Metcalfe K, Donnai D, et al. (2004) Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome. Eur J Hum Genet 12: 551-60.
57. van de Vosse E, van Wengen A, van Geelen JA, de Boer M, Roos D, et al. (2009) A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation. J Hum Genet 54: 313-316.
58. Kalbe E, Schlegel M, Sack A, Nowak D, Dafotakis M, et al. (2010) Dissociating cognitive from affective theory of mind: a TMS study,. Cortex 46: 769-780.
59. Yoshida W, Seymour B, Friston K, Dolan R, (2010) Neural mechanisms of belief inference during cooperative games. J Neurosci 30: 10744-10751.
60. Rubia K, Cubillo A, Smith A, Woolley J, Heyman I, et al. (2010) Disorder-specific dysfunction in right inferior prefrontal cortex during two inhibition tasks in boys with attention-deficit hyperactivity disorder compared to boys with obsessive-compulsive disorder. Hum Brain Mapp 31: 287-299.
61. Ravizza SM, Carter CS, (2008) Shifting set about task switching: behavioral and neural evidence for distinct forms of cognitive flexibility,. Neuropsychologia 46: 2924-2935.
62. O'Leary J, Osborne LR, (2011) Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice. PLoS One 2011 6 (8) (): e23868.
63. Chimge N, Makeyev AV, Ruddle FH, Bayarsaihan D, (2008) Identification of the TFII-I family target genes in the vertebrate genome. PNAS 105 (26) (): 9006-9010.
64. Dutra RL, de Campos Pieri P, Teixeira ACD, Sayuri Honjo R, Bertola I, et al. (2011) Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers. Clinics 66 (6) (): 959-964.
65. Pérez Jurado LA, Peoples R, Kaplan P, Hamel BC, Francke U, (1996) Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet 59: 781-792.
66. Collette JC, Chen XN, Mills DL, Galaburda AM, Reiss AL, et al. (2009) William's syndrome: gene expression is related to parental origin and regional coordinate control. J Hum Genet 54 (4) (): 193-8.
67. Friedman NP, Miyake A, Young SE, DeFries JC, Corley RP, et al. (2008) "Individual differences in executive functions are almost entirely genetic in origin". Journal of Experimental Psychology: General 137: 201-225.