Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin

American Journal of Medical Genetics

Volumn 78, Issue 1, 1998, Pages 82-89

  Wu, Yuan Qing ^a   Sutton, V Reid ^a   Nickerson, Elizabeth ^a   Lupski, James R ^a   Potocki, Lorraine ^a   Korenberg, Julie R ^b   Greenberg, Frank ^c   Tassabehji, Mayada ^d   Shaffer, Lisa G ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d ST MARY S HOSPITAL   (United Kingdom)

Author keywords

Chromosome 7; Elastin; LIM kinase; Microdeletion; Supravalvular aortic stenosis; Williams syndrome

Indexed keywords

ELASTIN;

ADULT; AORTA STENOSIS; ARTICLE; CHROMOSOME 7Q; CONGENITAL HEART MALFORMATION; DNA FLANKING REGION; ETHNOLOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GROWTH DISORDER; HAPLOTYPE; HUMAN; HYPERCALCEMIA; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; WILLIAMS BEUREN SYNDROME;

CHROMOSOMES, HUMAN, PAIR 7; DNA; DNA MUTATIONAL ANALYSIS; ELASTIN; FEMALE; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; SEQUENCE DELETION; WILLIAMS SYNDROME;

EID: 0031811718     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980616)78:1<82::AID-AJMG17>3.0.CO;2-K     Document Type: Article

References (40)

1. Bernard O, Ganiatsas S, Kannourakis G, Dringen R (1994): Kiz-1, a protein with LIM zinc finger and kinase domains, is expressed mainly in neurons. Cell Growth Differ 5:1159-1171.
2. Beuren AJ, Apitz J, Harmjanz D (1962): Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 26:1235-1240.
3. Borg I, Delhanty JDA, Baraitser 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.
4. Boyd CD, Urbán Z, Helms C, Peyrol S, Fekete G, Bonnet D, Munnich A, Donis-Keller H, Csiszar K (1996): Williams syndrome is characterized by 1 megabase deletion encompassing the elastin gene. Am J Hum Genet 59:A 249.
5. Burn J (1986): Williams syndrome. J Med Genet 23:389-395.
6. Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR (1997): Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154-163.
7. Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT (1993): The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73:159-168.
8. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT (1993): Hemizygosity at the ELN locus in a developmental disorder, Williams syndrome. Nat Genet 5:11-16.
9. Ewart AK, Jin W, Atkinson D, Morris CA, Keating MT (1994): Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest 93:1071-1077.
10. Foster K, Ferrell R, King-Underwood L, Povey S, Attwood J, Rennick R, Humphries SE, Henney AM (1993): Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7. Ann Hum Genet 57:87-96.
11. Fransgiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF, Klein BP, Ensing GJ, Everett LA, Green ED, Proschel C, Gutowski NJ, Noble M, Atkinson DL, Odelberg SJ, Keating MT (1996): LIM-kinase 1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 86:59-69.
12. Gilbert-Dussardier B, Bonneau D, Gigarel N, Le Merrer M, Bonnet D, Philip N, Serville F, Verloes A, Rossi A, Ayme S, Weissenbach J, Mattei MG, Lyonnet S, Munnich A (1995): A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. Am J Hum Genet 56:542-544.
13. Hamill PW, Drizd TA, Johnson CL, Reed RE, Roche AF, Moore WA (1979): Physical growth: National Center for Health Statistics percentile. Am J Clin Nutr 32:607-629.
14. Keating M (1994): Elastin and vascular disease. Trends Cardiovasc Med 4:165-169.
15. Kotzot D, Bernasconi F, Brecevic L, Robinson WP, Kiss P, Kosztolanyi G, Lurie IW, Superti-Furga A, Schinzel A (1995): Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. Eur J Pediatr 154:477-482.
16. Kunz J, Scherer SW, Klawitz I, Soder S, Du YZ, Speich N, Kalff-Suske M, Heng HHQ, Tsui CL (1994): Regional Localization of 725 human chromosome 7-specific yeast artificial chromosome clones. Genomics 22: 439-448.
17. Li DY, Toland AE, Boak BB, Atkinson DL, Ensing GJ, Morris CA, Keating MT (1997): Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum Mol Genet 6:1021-1028.
18. Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM (1992): Williams syndrome in adults. Am J Med Genet 44:720-729.
19. Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, Carey JC, Keating MT, 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.
20. 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 96:444-448.
21. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL (1988): Natural history of Williams syndrome: Physical characteristics. J Pediatr 113:318-326.
22. Morris CA, Thomas IT, Greenberg F (1993a): Williams syndrome: Autosomal dominant inheritance. Am J Med Genet 47:478-481.
23. Morris CA, Loker J, Ensing G, Stock AD (1993b): Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene. Am J Med Genet 46:737-744.
24. 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.
25. Nunoue K, Ohashi K, Okano I, Mizuno K (1995): LIMK-1 and LIMK-2, two members of a LIM motif-containing protein kinase family. Oncogene 11:701-710.
26. Olson TM, Michels W, 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.
27. Osborne LR, Martindale D, Scherer SW, Shi SM, Huizenga J, Heng HHQ, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC (1996): Identification of genes from a 500-Kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics 36:328-336.
28. Osborne LU, Soder S, Shi XM, 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.
29. Pérez Jurado LA, Peoples R, Kaplan P, Hamel BCJ, Francke U (1996): Molecular definition of chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet 59:781-792.
30. Peoples R, Pérez-Jurado L, Wang YK, Kaplan P, Francke U (1996): The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Am J Hum Genet 58:1370-1373.
31. Pröschel C, Blouin MJ, Gutowski NJ, Ludwig R, Noble M (1995): LIMK1 is predominantly expressed in neural tissues and phosphorylates serine, threonine and tyrosine residues in vitro. Oncogene 11:1271-1281.
32. Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR (1997): The human COX10 gene is disrupted during homologous recombination between the 24-Kb proximal and distal CMT1A-REPs. Hum Mol Genet 6:1595-1603.
33. 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 a repetitive sequence to within and to either side of the common deletion. Genomics 34:17-23.
34. 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.
35. Tassabehji M, Metcalfe K, Fergusson WD, Carette MJA, Dore JK, Donnai D, Read AP (1996): LIM-kinase deleted in Williams syndrome. Nature Genet 13:272-273.
36. Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read AP (1997): Elastin: Genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Genet 6:1029-1036.
37. Udwin O (1990): A survey of adults with Williams syndrome and idiopathic infantile hypercalcemia. Dev Med Child Neurol 32:129-141.
38. Urban Z, Helms C, Fekete G, Csiszar K, Bonnet D, Munnich A, Donnis-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.
39. Wang YK, Samos CH, Peoples R, Pérez -Jurado LA, Nusse R, Francke U (1997): A novel human homologue of the Drosophila frizzled Wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. Hum Mol Genet 6:465-472.
40. Williams JCP, Barratt-Boyes BG, Lowe JB (1961): Supravalvular aortic stenosis. Circulation 24:1311-1318.