Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 154, Issue 2, 2010, Pages 220-228

  Hobart, Holly H ^a   Morris, Colleen A ^b   Mervis, Carolyn B ^c   Pani, Ariel M ^d   Kistler, Doris J ^c   Rios, Cecilia M ^e   Kimberley, Kendra W ^f   Gregg, Ronald G ^c   Bray Ward, Patricia ^g  

^a UNIVERSITY OF SOUTH ALABAMA   (United States)

^b Division of Otolaryngology Head and Neck Surgery   (United States)

^c UNIVERSITY OF LOUISVILLE   (United States)

^d UNIVERSITY OF CHICAGO   (United States)

^e University of Nevada School of Medicine   (United States)

^f University of Nevada School of Medicine   (United States)

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

Author keywords

7q11.23; Genetic counseling; Inversion; Williams syndrome

Indexed keywords

ARTICLE; CHILD; CHROMOSOME DELETION; CHROMOSOME INVERSION; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE DELETION; GENE FREQUENCY; GENETIC COUNSELING; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SEX DIFFERENCE; SPONTANEOUS ABORTION; WILLIAMS BEUREN SYNDROME;

ALLELES; CHILD; CHROMOSOME INVERSION; CHROMOSOME MAPPING; CONFIDENCE INTERVALS; FEMALE; GENE DOSAGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; ODDS RATIO; PARENTS; POLYMORPHISM, GENETIC; RECOMBINATION, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; WILLIAMS SYNDROME;

EID: 77951563658     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30258     Document Type: Article

References (35)

1. Agresti A, Couli B. 1998. Approximate is better than "exact" for interval estimation of binomial proportions. Am Stat 52:119-126.
2. Andersen A, Wohlfahrt J, Christens P, Olsen J, Melbye M. 2000. Maternal age and fetal loss: Population based register linkage study. Br Med J 320:1708-1712. (Pubitemid 30410486)
3. Baumer A, Dutly F, Balmer D, Reigel M, Tükel T, Krajewska-Walasek M, Schintzel AA. 1998. High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions. Hum Mol Genet 7:887-894. (Pubitemid 28221253)
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. Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW, et al. 2007. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med 9:427-441. (Pubitemid 47222135)
6. Castorina P, Selicorni A, Bedeschi F, Dalprà L, Larizza L. 1997. Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome. Am J Med Genet 69:107-111. (Pubitemid 27111191)
7. Cusco I, Corominas R, Bayes M, Flores R, Rivera-Brugus N, Campuzano V, Pérez- Jurado LA. 2008. Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for theWilliams-Beuren syndrome deletion. Genome Res 18:683-694. (Pubitemid 351645059)
8. 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. (Pubitemid 26413631)
9. Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. 2001. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 68:874-883. (Pubitemid 32289733)
10. Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol Ll, Schintzel A, Estivill X, Zuffardi O. 2003. Genomic inversion of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Mol Genet 12:849-858. (Pubitemid 36504027)
11. Kriek M, White SJ, Szuhai K, Knijnenburg van Ommen G-JB, den Dunnen JT, Breuning MH. 2006. Copy number variation in regions flanked (or unflanked) by LCRs among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet 14:180-189. (Pubitemid 43135861)
12. Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. 2008. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet 83:106-111.
13. Mizugishi K, Yamanaka K, Kuwajima K, Kondo I. 1998. Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. J Hum Genet 43:178-181.
14. Morris CA. 2006. Genotype-phenotype correlation in Williams-Beuren syndrome. In: Morris CA, Lenhoff HM,Wang PP, editors. Williams-Beuren syndrome: Research, evaluation, and treatment. Baltimore, MD: Johns Hopkins University Press. pp 58-82.
15. Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD. 2003. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in theWilliams syndrome region. Am J Med Genet Part A 123A: 45-59.
16. Morris CA, Thomas IT, Greenberg F. 1993. Williams syndrome: Autosomal dominant inheritance. Am J Med Genet 47:478-481.
17. Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui L-C, Scherer SW. 2001. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 29:321-325.
18. 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.
19. Pérez Jurado LA, Peoples R, Kaplan P, Hamel BCJ, 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.
20. Robinson WP, Waslynka J, Bernasconi F, Wang M, Clark S, Kotzot D, Schinzel A. 1996. Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of repetitive sequence to within and to either side of the common deletion. Genomics 34:17-23.
21. Rudd MK, Keene J, Bunke B, Kaminsky EB, Adam MP, Mulle JG, Ledbetter DH, Martin CL. 2009. Segmental duplications mediate novel, clinically relevant chromosome rear-rangements. Hum Mol Genet 18:2957-2962.
22. Sadler LS, Robinson LK, Verdaasdonk KR, Gingell R. 1993. The Williams syndrome: Evidence for possible autosomal dominant inheritance. Am J Med Genet 47:468-470.
23. Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont J-P, 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.
24. Schubert C. 2009. The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci 66:1178-1197.
25. Sharp AJ. 2009. Emerging themes and new challenges in defining the role of structural variation in human disease. Hum Mutat 30:135-144.
26. Somerville MJ, Mervis CB, Young EJ, Seo E-J, 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.
27. Stankiewicz P, Lupski JR. 2002. Genomic architecture, rearrangements and genomic disorders. Trends Genet 18:74-82.
28. Stock AD, Spallone PA, Dennis TR, Netski D, Morris CA, Mervis CB, Hobart HH. 2003. Heat shock protein 27 gene: Chromosomal and molecular location and relationship to Williams syndrome. Am J Med Genet Part A 120A:320-325.
29. Strømme P, Bjørnstad PG, Ramstad K. 2002. Prevalence estimation of Williams syndrome. J Child Neurol 17:269-271.
30. Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR. 2008. The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms. Am J Med Genet Part A 146A:1797-1806.
31. Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA. 2006. Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11. Eur J Hum Genet 14:831-837.
32. Turner DJ, Miretti M, Rajan D, Fiegler H, Carter NP, Blayney ML, Beck S, Hurles ME. 2008. Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet 40:90-95.
33. Urbán Z, Helms C, Fekete G, Csiszár K, Bonnet D, Munnich A, Donis-Keller H, Boyd CD. 1996. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet 59: 958-962.
34. Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF. 2009. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet 52:94-100.
35. Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P. 2009. Rare pathogenic microdeletions and tandem duplications are microhomology- mediated and stimulated by local genomic architecture. Hum Mol Genet 18:3579-3593.