GTF2I Hemizygosity Implicated in Mental Retardation in Williams Syndrome: Genotype-Phenotype Analysis of Five Families With Deletions in the Williams Syndrome Region

American Journal of Medical Genetics

Volumn 123 A, Issue 1, 2003, Pages 45-59

  Morris, Colleen A ^a   Mervis, Carolyn B ^b   Hobart, Holly H ^a   Gregg, Ronald G ^b   Bertrand, Jacquelyn ^c   Ensing, Gregory J ^d   Sommer, Annemarie ^e   Moore, Cynthia A ^c   Hopkin, Robert J ^f   Spallone, Patricia A ^a   Keating, Mark T ^g   Osborne, Lucy ^h   Kimberley, Kendra W ^a   Stock, A Dean ^a  

^a UNIVERSITY OF NEVADA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF LOUISVILLE   (United States)

^c CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^d UNIVERSITY OF MICHIGAN   (United States)

^e THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^f CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h UNIVERSITY OF TORONTO   (Canada)

Author keywords

7q11.23 deletion; ELN; Genotype phenotype correlation; GTF2I; LIMK1; Supravalvar aortic stenosis; Williams syndrome

Indexed keywords

ELASTIN;

AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CARDIOVASCULAR DISEASE; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITION; CONNECTIVE TISSUE DISEASE; FAMILY; FEMALE; GENE DELETION; GENETIC ANALYSIS; GENOTYPE; HEMIZYGOSITY; HERNIA; HUMAN; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; WILLIAMS BEUREN SYNDROME;

EID: 10744221593     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20496     Document Type: Article

References (76)

1. Arber S, Barbayannis FA, Hanser H, Schneider C, Stanyon CA, Bernard O, Caroni P. 1998. Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase. Nature 393:805-809.
2. Bayes M, Magano LF, Rivera N, Flores R, Perez Jurado LA. 2003. Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet 73:131-151.
3. Bayley N. 1969. Bayley Scales of Infant Development. New York, NY: Psychological Corporation.
4. Bayley N. 1993. Bayley Scales of Infant Development-II. San Antonio, TX: Psychological Corporation.
5. Beighton P. 1972. The dominant and recessive forms of cutis laxa. J Med Genet 9:216-221.
6. Biesecker LG. 1998. Lumping and splitting: Molecular biology in the genetics clinic. Clin Genet 53:3-7.
7. Botta A, Novelli G, Mari A, Novelli A, Sabini M, Korenberg J, Osborne LR, Digilio MC, Giannotti A, Dallapiecola B. 1999. Detection of an atypical 7q11. 23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. J Med Genet 36(6):478-480.
8. Conway EE, Noonan J, Marion RW, Steeg CN. 1990. Myocardial infarction leading to sudden death in the Williams syndrome: Report of three cases. J Pediatr 117:593-595.
9. Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, et al. 1993. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73:159-168.
10. Del Campo M, Magano L, Martinez Iglesias J, Perez Jurado L. 2002. Partial features of Williams-Beuren syndrome in a family with a novel 700 Kb 7q11.23 deletion. Proc Greenwood Genet Cent 21:169.
11. Dunn LE, Dunn LE. 1981. Peabody Picture Vocabulary Test-Revised. Circle Pines, MN: American Guidance Service.
12. Dutly F, Schinzel A. 1996. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet 5:1893-1898.
13. Eisenberg R, Young D, Jacobson B, Boito A. 1964. Familial supravalvular aortic stenosis. Am J Dis Child 108:341-347.
14. Elliott CD. 1990a. Differential Ability Scales. San Antonio, TX: Psychological Corporation.
15. Elliott CD. 1990b. Differential Ability Scales: Introductory and Technical Handbook. San Antonio, TX: Psychological Corporation.
16. Ensing GJ, Schmidt MA, Hagler DJ, Michels VV, Carter GA, Felt RH. 1989. Spectrum of findings in a family with nonsyndromatic autosomal dominant supravalvular aortic stenosis: A Doppler echocardiographic study. J Am Coll Cardiol 13:413-419.
17. Ewart AK, Morris CA, Ensing GJ, Loker J, Moore C, Leppert M, Keating M. 1993a. A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7. Proc Natl Acad Sci USA 90(8):3226-3230.
18. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT. 1993b. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 5:11-16.
19. Ewart AK, Weishan J, Atkinson D, Morris CA, Keating MT. 1994. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest 93:1071-1077.
20. Francke U. 1999. Williams-Beuren syndrome: Genes and mechanisms. Hum Mol Genet 8:1947-1954.
21. Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF, Klein BP, Ensing GJ, Everett LA, Green ED, Pröschel C, Gutowski N, Noble M, Atkinson DL, Odelberg S, Keating MT. 1996. LIM-kinasel hemizygosity implicated in impaired visuospatial constructive cognition. Cell 86:59-69.
22. Gosch A, Pankau R. 1997. Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome. Dev Med Child Neurol 39:327-533.
23. Grimm T, Wesselhoeft H. 1980. Zur Genetik des Williams-Beuren-Syndroms und der Isolierten Form der Supravalvularen Aortenstenose Untersuchungen von 128 Familien. Z Kardiol 69:168-172.
24. Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R. 2003. A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes. J Biol Chem 278(9): 7234-7239.
25. Hertzberg J, Nakisbendi L, Neddleman HL, Pober B. 1994. Williams syndrome - Oral presentation of 45 cases. Pediatr Dent 16:262.
26. Jones KL, Smith DW. 1975. The Williams elfin facies syndrome. J Pediatr 86:718-723.
27. Kaplan P, Kirschner M, Watters G, Costa T. 1989. Contractures in patients with Williams syndrome. Pediatrics 84:895-899.
28. Karmiloff-Smith A, Grant J, Ewing S, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M. 2003. Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. J Med Genet 40:136-140.
29. Kaufman AS, Kaufman NL. 1990. Kaufman Brief Intelligence Test. Circle Pines, MN: American Guidance Service, Inc.
30. Kececioglu D, Kotthoff S, Vogt J. 1993. Williams-Beuren syndrome: A 30-year follow-up of natural and postoperative course. Eur Heart J 14:1458-1464.
31. Korenberg JR, Chen XN, Hirota H, Lai Z, Bellugi U, Burian D, Roe B, Matsuoka R. 2000. VI. Genome structure and cognitive map of Williams syndrome. J Cogn Neurosci 1:89-107.
32. Li DY, Toland AE, Boak BB, Atkinson D, Ensing GJ. 1997. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum Mol Genet 6:1021-1028.
33. Lowery MC, Morris CA, Ewart A, Brothman L, Zhu XL, Leonard CO, Carey JC, Keating M, Brothman AR. 1995. Strong correlations of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients. Am J Hum Genet 57:49-53.
34. Meng X, Lu X, Zhizhong L, Green ED, Massa H, Trask BJ, Morris CA, Keating MT. 1998. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Hum Genet 103:590-599.
35. Merritt DA, Palmar CG, Lurie PR, Petry EL. 1963. Supravalvular aortic stenosis: Genetic and clinical studies. J Lab Clin Med 62:995.
36. Mervis CB, Bertrand J. 1997. Developmental relations between cognition and language: Evidence from Williams syndrome. In: Adamson LB, Romski MA, editors. Communication and language acquisition: Discoveries from atypical development. New York: Brookes. pp 75-106.
37. Mervis CB, Morris CA, Bertrand J, Robinson BF. 1999a. Williams syndrome: Findings from an integrated program of research. In: Tager-Flusberg H, editor. Neurodevelopmental disorders. Cambridge, MA: MIT Press. pp 65-110.
38. Mervis CB, Robinson BF, Pani JR. 1999b. Visuospatial construction. Am J Hum Genet 65:1222-1229.
39. Mervis CB, Robinson BF, Bertrand J, Morris CA, Klein-Tasman BP, Armstrong SC. 2000. The Williams Syndrome Cognitive Profile. Brain Cogn 44:604-628.
40. Mervis CB, Robinson BF, Rowe ML, Becerra AM, Klein-Tasman BP. 2003. Language abilities of individuals with Williams syndrome. In: Abbeduto L, editor. International Review of Research in Mental Retardation, Vol. 27. Orlando, FL: Academic Press.
41. Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M. 2000. Elastin: Mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet 8(12):955-963.
42. Morris CA, Mervis CB. 1999. Williams syndrome. In: Goldstein S, Reynolds C, editors. Handbook of neurodevelopmental and genetic disorders in children. New York: Guilford. pp 555-590.
43. Morris CA, Mervis CB. 2000. Williams syndrome and related disorders. Annu Rev Genomics Hum Genet 1:461-484.
44. Morris CA, Moore CA. 1991. The inheritance of Williams syndrome. Proc Greenwood Genet Cent 10:81-82.
45. Morris CA, Dilts C, Demsey SA, Leonard CO, Blackburn B. 1988. The natural history of Williams syndrome: Physical characteristics. J Pediatr 113:318-326.
46. Morris CA, Leonard CO, Dilts C, Demsey SA. 1990. Adults with Williams syndrome. Am J Med Genet Suppl 6:102-107.
47. Morris CA, Loker J, Ensing G, Stock AD. 1993a. Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene. Am J Med Genet 46:737-744.
48. Morris CA, Thomas IT, Greenberg F. 1993b. Williams syndrome: Autosomal dominant inheritance. Am J Med Genet 47:478-481.
49. Morris CA, Mervis CB, Robinson BF, DeSilva N, Spallone P, Stock AD, Lu X, Meng X, Keating MT. 1999a. Deletion length correlates with IQ in Williams syndrome. Am J Hum Genet Suppl 65(4):A69.
50. Morris CA, Mervis CB, Robinson BF, Keating MT, Lu X, Meng X, Spallone P, Dennis TR, Stock AD. 1999b. Long deletions of the Williams syndrome region on chromosome 7 result in more severe mental retardation. Annu Clin Genet Meet Am Coll Med Genet 1(2):59.
51. Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG. 1995. Deletions of the elastin gene at 7q11.23 occur in ∼90% of patients with Williams syndrome. Am J Hum Genet 56:1156-1161.
52. O'Connor W, Davis J, Geissler R, Cottrill C, Noonan J, Todd EP. 1985. Supravalvular aortic stenosis: Clinical and pathologic observations in six patients. Arch Pathol Lab Med 109:179-185.
53. Olson TM, Michels VV, Lindor NM, Pastores GM, Weber JL, Schaid DJ, Driscoll DJ, Feldt RH, Thibodeau SN. 1993. Autosomal dominant supravalvular aortic stenosis: Localization to chromosome 7. Hum Mol Genet 2:869-873.
54. Olson TM, Michels VV, Urban Z, Csiszar K, Christiano AM, Driscoll DJ, Feldt RH, Boyd CD, Thibodeau SN. 1995. A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet 4:1677-1679.
55. Osborne LR. 1999. Williams-Beuren syndrome: Unraveling the mysteries of a microdeletion disorder. Mol Genet Metab 67:1-10.
56. Osborne LR, Soder S, Shi X-M, Pober B, Costa T, Scherer SW, Tsui LC. 1997. Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. Am J Hum Genet 61:449-452.
57. Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. 2001. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 29(3):321-325.
58. Pankau R, Partsch C-J, Gosch A, Oppermann HC, Wessel A. 1992. Statural growth in Williams-Beuren syndrome. Eur J Pediatr 151:751-755.
59. Pankau R, Partsch C-J, Winter M, Gosch A, Wessel A. 1996. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Am J Med Genet 63:301-304.
60. Perez Jurado LA, Peoples R, Kaplan P, Hamel BC, Francke U. 1996. Molecular definition of the chromosome 7 deletions in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet 59:781-792.
61. Perez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U. 1998. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet 7:325-334.
62. Pober BR, Szekely AM. 1999. Distinct neurological profile in Williams syndrome. Am J Hum Genet Suppl 65(4):A70.
63. Pober BR, Lacro RV, Rice C, Mandell V, Teele RL. 1993. Renal findings in 40 individuals with Williams syndrome. Am J Med Genet 46:271-274.
64. Pober BR, Wang E, Osborne L, Petersen K, Caprio S. 2002. Impaired glucose tolerance - Another endocrine problem in Williams syndrome. Proc Greenwood Genet Cent 21:169.
65. Reiss AL, Eliez S, Schmitt JE, Straus E. 2000. IV. Neuroanatomy of Williams syndrome: A high-resolution MRI study. J Cogn Neurosci 12(Suppl 1):65-73.
66. Sadler LS, Robinson LK, Verdaasdonk KR, Gingell R. 1993. The Williams syndrome: Evidence for possible autosomal dominant inheritance. Am J Med Gen 47:468-470.
67. Sadler LS, Olitsky SE, Reynolds JD. 1996. Reduced stereoacuity in Williams syndrome. Am J Med Genet 66:287-288.
68. Schmidt MA, Ensing GJ, Michels VV, Carter GA, Hagler DJ, Feldt RH. 1989. Autosomal dominant supravalvular aortic stenosis: Large three-generation family. Am J Med Genet 32:384-389.
69. Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS, Kielty C, et al. 1998. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet 7:1021-1028.
70. 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.
71. Urban Z, Helms C, Fekete G, Csiszar K, Bonnet D, et al. 1996. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet 59:958-962.
72. Wang JY, Frenzel KE, Wen D, Falls DL. 1998. Transmembrane neuregulins interact with LIM kinase 1, a cytoplasmic protein kinase implicated in development of visuospatial cognition. J Biol Chem 273:20525-20534.
73. Winter M, Pankau R, Amm M, Gosch A, Wessel A. 1996. The spectrum of ocular features in the Williams-Beuren syndrome. Clin Genet 49:28-31.
74. Wu Y-Q, Reid Sutton V, Nickerson E, Lupski JR, Potocki L, Korenburg JR, Greenberg F, Tassabenji M, Shaffer LG. 1998. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet 78:82-89.
75. Yang N, Higuchi O, Ohashi K, Nagata K, Wada A, Kangawa K, Nishida E, Mizuno K. 1998. Cofilin phosphorylation by LIM-kinase 1 and its role in Rac-mediated actin reorganization. Nature 393:809-812.
76. Zhang MC, He L, Giro M, Yong SL, Tiller GE, Davidson JM. 1999. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J Biol Chem 274:981-986.