The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms

American Journal of Medical Genetics, Part A

Volumn 146, Issue 14, 2008, Pages 1797-1806

  Tam, Elaine ^a   Young, Edwin J ^a   Morris, Colleen A ^b   Marshall, Christian R ^c   Loo, Wayne ^a   Scherer, Stephen W ^a,c   Mervis, Carolyn B ^d   Osborne, Lucy R ^a  

^a UNIVERSITY OF TORONTO   (Canada)

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

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF LOUISVILLE   (United States)

Author keywords

Chromosome inversion; Copy number variant; Gene expression; Genetic polymorphism; Williams syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BASE PAIRING; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME 7Q; CHROMOSOME DELETION; CHROMOSOME INVERSION; COGNITIVE DEFECT; FEMALE; GENE DUPLICATION; GENE EXPRESSION PROFILING; GENETIC POLYMORPHISM; GENOME ANALYSIS; HUMAN; LEARNING DISORDER; PRIORITY JOURNAL; SYMPTOM; VELOCARDIOFACIAL SYNDROME; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; ADULT; BASE SEQUENCE; BEHAVIOR; CHROMOSOMES, HUMAN, PAIR 7; DIAGNOSIS, DIFFERENTIAL; DNA PRIMERS; FEMALE; GENE DOSAGE; GENE EXPRESSION; HUMANS; INTELLIGENCE; INVERSION, CHROMOSOME; PENETRANCE; PHENOTYPE; SEQUENCE DELETION; VARIATION (GENETICS); WILLIAMS SYNDROME;

EID: 47349123482     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32360     Document Type: Article

References (47)

1. Alberti A, Romano C, Falco M, Call F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M. 2007. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Clin Genet 71:177-182.
2. Antonell A, de Luis O, Domingo-Roura X, Perez-Jurado LA. 2005. Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23. Genome Res 15:1179-1188.
3. Arnold JS, Werling U, Braunstein EM, Liao J, Nowotschin S, Edelmann W, Hebert JM, Morrow BE. 2006. Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Development 133:977-987.
4. Bayés M, Magano LF, Rivera N, Flores R, Pérez-Jurado LA. 2003. Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet 73:131-151.
5. Bellugi U, Bihrle A, Jernigan T, Trauner D, Doherty S. 1990. Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome. Am J Med Genet 6:115-125.
6. Bruininks R, Woodcock R, Weatherman R, Hill BK. 1996. Scales of independent behavior - Revised. Itasca, IL: Riverside Publishing.
7. Debeer P, Vandenbossche L, de Ravel TJ, Desloovere C, De Smet L, Huysmans C, Thoelen R, Vermeesch J, Van de Ven WJ, Fryns JP. 2004. Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: A variant of SHFM1. Clin Genet 65:153-155.
8. Elliott C. 1990. Differential ability scales. San Antonio, TX: Psychological Corporation.
9. Ensenauer RE, Adeyinka A, Flynn HC, Michels W, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM. 2003. Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 73:1027-1040.
10. Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith AC, Stevens AF, Temple IK, Hennekam R, Tassabehji M. 2005. Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet 77:999-1010.
11. Hobart HH, Gregg RG, Mervis CB, Robinson BF, Kimberley KW, Rios CM, Morris CA. 2004. Heterozygotes for the microinversion of the Williams-Beuren syndrome region have an increased risk for affected offspring. [Abstract 891] Presented at The American Society of Human Genetics. 2004, Toronto, Canada, http://www.ashg.org/genetics/ashg/annmeet/2004/menu-annmeet-2004.shtml.
12. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949-951.
13. Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS. 2008. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat 29:433-440.
14. Klein-Tasman BP, Mends CB. 2003. Distinctive personality characteristics of 8-, 9-, and 10-year-olds with Williams syndrome. Dev Neuropsychol 23:269-290.
15. Leyfer OT, Woodruff-Borden J, Klein-Tasman BP, Fricke JS, Mervis CB. 2006. Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome. Am J Med Genet Part B Neuropsychiatr Genet 141B:615-622.
16. Li C, Wong WH. 2001. Model-based analysis of oligonucleotide arrays: Expression index computation and outlier detection. Proc Natl Acad Sci USA 98:31-36.
17. Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG, Pinkel D, Altshuler DM, Eichler EE. 2006. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet 79:275-290.
18. Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, Carey JC, Keating M, Brothman AR. 1995. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients. Am J Hum Genet 57:49-53.
19. Mari A, Amati F, Mingarelli R, Giannotti A, Sebastio G, Colloridi V, Novelli G, Dallapiccola B. 1995. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. Hum Genet 444-448.
20. Martin ND, Smith WR, Cole TJ, Preece MA. 2007. New height, weight and head circumference charts for British children with Williams Syndrome. Arch Dis Child 92:598-601.
21. Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A. 2006. Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet 79:332-341.
22. Mervis CB, Becerra AM. 2006. Language and communicative development in Williams syndrome. Ment Retard Dev Disabil Res Rev 13:3-15.
23. Mervis CB, Klein-Tasman BP. 2000. Williams syndrome: Cognition, personality, and adaptive behavior. Ment Retard Dev Disabil Res Rev 6:148-158.
24. Mervis CB, Morris CA. 2007. Williams syndrome. In: Mazzocco MMM, Ross JL, editors. Neurogenetic developmental disorders: Variation of manifestation in childhood. Cambridge, MA: MIT Press. p 199-262.
25. Mervis CB, Robinson BF, Bertrand J, Morris CA, Klein-Tasman BP, Armstrong SC. 2000. The Williams syndrome cognitive profile. Brain Cogn 44:604-628.
26. Morris CA. 2006a. The dysmorphology, genetics, and natural history of Williams-Beuren syndrome. In: Morris CA, Lenhoff H, Wang P, editors. Williams-Beuren syndrome: Research, evaluation, and treatment. Baltimore, MD: Johns Hopkins University Press. p 3-17.
27. Morris CA. 2006b. Genotype-phenotype correlations in Williams-Beuren syndrome. In: Morris CA, Lenhoff HM, Wang PP, editors. Williams-Beuren syndrome. Baltimore, MD: Johns Hopkins University Press. p 59-82.
28. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. 1988. Natural history of Williams syndrome: Physical characteristics. J Pediatr 113:318-326.
29. 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.
30. Osborne LR, Mervis CB. 2007. Rearrangements of the Williams-Beuren syndrome locus: Molecular basis and implications for speech and language development. Expert Rev Mol Med 9:1-16.
31. 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 29:321-325.
32. Osborne LR, Joseph-George AM, Scherer SW. 2006. Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization. Methods Mol Med 126:113-128.
33. Pober BR, Dykens EM. 1996. Williams syndrome: An overview of medical, cognitive, and behavioral features. Child Adolesc Psych Clinics N Am 5:929-943.
34. Portnoi MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S. 2005. 22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. Am J Med Genet Part A 137A:47-51.
35. Rodriguez-Revenga L, Mila M, Rosenberg C, Lamb A, Lee C. 2007. Structural variation in the human genome: The impact of copy number variants on clinical diagnosis. Genet Med 9:600-606.
36. Scherer SW, Osborne LR. 2006. Williams-Beuren syndrome. In: Lupski J, Stankiewicz P, editors. Genomic disorders: The genomic basis of disease. Totowa, NY: Humana Press Inc. p 221-236.
37. Scherer SW, Poorkaj P, Massa H, Soder S, Allen T, Nunes M, Geshuri D, Wong E, Belloni E, Little S, Zhou L, Becker D, Kere J, Ignatius J, Niikawa N, Fukushima Y, Hasegawa T, Weissenbach J, Boncinelli E, Trask B, Tsuil L-C, Evans JP. 1994. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Hum Mol Genet 3:1345-1354.
38. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskem D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM. Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC 2003. Human chromosome 7: DNA sequence and biology. Science 300:767-772.
39. Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont JP, Pérez-Jurado LA, Osborne LR. 2005. Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. Hum Genet 117:383-388.
40. Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J, Singleton A. 2007. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 16:1-14.
41. Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. 2005. Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med 353:1694-1701.
42. Sugayama SM, Leone C, Chauffaille MD, Okay TS, Kim CA. 2007. Williams Syndrome: Development of a new scoring system for clinical diagnosis. Clinics 62:159-166.
43. Wechsler D. 1999. Wechsler abbreviated scaleof intelligence. San Antonio, TX: Psychological Corporation.
44. Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, MacAulay C, Ng RT, Brown CJ, Eichler EE. Lam WL. 2007. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 80:91-104.
45. Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE. 2005. Microduplication and triplication of 22q11.2: A highly variable syndrome. Am J Hum Genet 76:865-876.
46. Zhao X, Li C, Paez JG, Chin K, Jänne PA, Chen TH, Girard L, Minna J, Christiani D, Leo C, Gray JW, Sellers WR, Meyerson M. 2004. An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res 64:3060-3071.
47. Zhao X, Weir BA, LaFramboise T, Lin M, Beroukhim R, Garraway L, Beheshti J, Lee JC, Naoki K, Richards WG, Sugarbaker D, Chen F, Rubin MA, Jänne PA, Girard L, Minna J, Christiani D, Li C, Sellers WR, Meyerson M. 2005. Homozygous deletions and chromosome amplifications in human lung carcinomas revealed by single nucleotide polymorphism array analysis. Cancer Res 65:5561-5570.