Human Molecular Genetics, 1999, Vol. 8, No. 10 1947-1954
© 1999 Oxford University Press
Review |
Williams–Beuren syndrome:genes and mechanisms
Howard Hughes Medical Institute and Department of Genetics,Stanford University School of Medicine, Stanford, CA 94305-5323,USA
ABSTRACT
Williams–Beuren syndrome (WBS; OMIM 194050)is caused by heterozygous deletions of ~1.6 Mb of chromosomal sub-band7q11.23. The deletions are rather uniform in size as they arisespontaneously by inter- or intrachromosomal crossover events withinmisaligned duplicated regions of high sequence identity that flank thetypical deletion. This review will discuss the status of the molecularcharacterization of the deletion and flanking regions, the genesidentified in the deletion region and their possible roles in generatingthe complex multi-system clinical phenotype.
FOOTNOTES
a Tel: +1650 725 8089; Fax: +1 650 725 8112; Email: francke{at}cmgm.stanford.edu
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  C Howald, G Merla, M C Digilio, S Amenta, R Lyle, S Deutsch, U Choudhury, A Bottani, S E Antonarakis, H Fryssira, et al. Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions J. Med. Genet., March 1, 2006; 43(3): 266 - 273. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Antonell, O. de Luis, X. Domingo-Roura, and L. A. Perez-Jurado Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23 Genome Res., September 1, 2005; 15(9): 1179 - 1188. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Bunda, N. Kaviani, and A. Hinek Fluctuations of Intracellular Iron Modulate Elastin Production J. Biol. Chem., January 21, 2005; 280(3): 2341 - 2351. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. P. Cagle, S. G. Waguespack, B. A. Buckingham, R. R. Shankar, and L. A. DiMeglio Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate Pediatrics, October 1, 2004; 114(4): 1091 - 1095. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Merla, C. Howald, S. E. Antonarakis, and A. Reymond The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3 Hum. Mol. Genet., July 15, 2004; 13(14): 1505 - 1514. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R Heller, A Rauch, S Luttgen, B Schroder, and A Winterpacht Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome J. Med. Genet., August 1, 2003; 40(8): e99 - 99. [Full Text] [PDF]
|
|
|
|
|
|
C Gagliardi, M C Bonaglia, A Selicorni, R Borgatti, and R Giorda Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion J. Med. Genet., July 1, 2003; 40(7): 526 - 530. [Full Text] [PDF]
|
|
|
|
|
|
D. Vullhorst and A. Buonanno Characterization of General Transcription Factor 3, a Transcription Factor Involved in Slow Muscle-specific Gene Expression J. Biol. Chem., February 28, 2003; 278(10): 8370 - 8379. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A Karmiloff-Smith, J Grant, S Ewing, M J Carette, K Metcalfe, D Donnai, A P Read, and M Tassabehji Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome J. Med. Genet., February 1, 2003; 40(2): 136 - 140. [Full Text] [PDF]
|
|
|
|
 |
|
 F.-M. Deng, F.-X. Liang, L. Tu, K. A. Resing, P. Hu, M. Supino, C.-C. A. Hu, G. Zhou, M. Ding, G. Kreibich, et al. Uroplakin IIIb, a urothelial differentiation marker, dimerizes with uroplakin Ib as an early step of urothelial plaque assembly J. Cell Biol., November 25, 2002; 159(4): 685 - 694. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
V. Cheriyath, Z. P. Desgranges, and A. L. Roy c-Src-dependent Transcriptional Activation of TFII-I J. Biol. Chem., June 14, 2002; 277(25): 22798 - 22805. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. Kaplan Williams Syndrome-Does Early Diagnosis Matter? Clinical Pediatrics, May 1, 2002; 41(4): 277 - 280. [PDF]
|
|
|
|
 |
|
 P Nokelainen and J Flint Genetic effects on human cognition: lessons from the study of mental retardation syndromes J. Neurol. Neurosurg. Psychiatry, March 1, 2002; 72(3): 287 - 296. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
U. DeSilva, L. Elnitski, J. R. Idol, J. L. Doyle, W. Gan, J. W. Thomas, S. Schwartz, N. L. Dietrich, S. M. Beckstrom-Sternberg, J. C. McDowell, et al. Generation and Comparative Analysis of ~3.3 Mb of Mouse Genomic Sequence Orthologous to the Region of Human Chromosome 7q11.23 Implicated in Williams Syndrome Genome Res., January 1, 2002; 12(1): 3 - 15. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Calvo, D. Vullhorst, P. Venepally, J. Cheng, I. Karavanova, and A. Buonanno Molecular Dissection of DNA Sequences and Factors Involved in Slow Muscle-Specific Transcription Mol. Cell. Biol., December 15, 2001; 21(24): 8490 - 8503. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Cairo, G. Merla, F. Urbinati, A. Ballabio, and A. Reymond WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network Hum. Mol. Genet., March 1, 2001; 10(6): 617 - 627. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. Kaplan, P. P. Wang, and U. Francke Williams (Williams Beuren) Syndrome: A Distinct Neurobehavioral Disorder J Child Neurol, March 1, 2001; 16(3): 177 - 190. [PDF]
|
|
|
|
 |
|
 D. Bayarsaihan and F. H. Ruddle Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains PNAS, June 20, 2000; 97(13): 7342 - 7347. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Ji, E. E. Eichler, S. Schwartz, and R. D. Nicholls Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders Genome Res., May 1, 2000; 10(5): 597 - 610. [Abstract] [Full Text]
|
|