Williams Syndrome Medline Alert - July 1999

From the Medical Literature - July 1999


Record  1

Williams-Beuren syndrome: an update and review for the primary physician. Lashkari A; Smith AK; Graham JM Jr Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, UCLA School of Medicine. Clin Pediatr (Phila) (UNITED STATES) Apr 1999, 38 (4) p189-208, ISSN 0009-9228 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW LITERATURE

Williams-Beuren syndrome is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. It consists of a variety of hallmark physical features, which include distinctive facial characteristics, cardiac anomalies (of which the most common is supravalvular aortic stenosis), and occasional idiopathic hypercalcemia. The condition also includes a unique cognitive profile, with relative sparing of language and facial recognition skills against a background of mental retardation. This paper reviews the early history and clinical experience with this syndrome, how it unfolds from infancy through adulthood, and how it manifests in different organ systems. Evidence-based recommendations are then offered for the treatment of the specific developmental and medical issues that arise in patients with Williams syndrome. (74 Refs.)


Record 2

Elastin: molecular description and function. Debelle L; Tamburro AM Department of Chemistry, University of Basilicata, Potenza, Italy. Int J Biochem Cell Biol (ENGLAND) Feb 1999, 31 (2) p261-72, ISSN 1357-2725 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL

Elastin, the protein responsible for the elastic properties of vertebrate tissues, has been thought to be solely restricted to that role. As a consequence, elastin was conventionally described as an amorphous polymer. Recent results in the biomedical, biochemical and biophysical fields have lead to the conclusion that the presence of elastin in the extracellular space has very complex implications involving many other molecules. The present review describes the current state of knowledge concerning elastin as an elastic macromolecule. First, the genetic, biological, biochemical and biophysical processes leading to a functional polymer are described. Second, the elastic function of elastin is discussed. The controversy on elastin structure and elasticity is discussed and a novel dynamic mechanism of elasticity proposed. Finally, pathologies where the elastin molecule is involved are considered. This updated description of functional elastin provides the required background for the understanding of its pathologies and defines clearly the properties a substance should possess to be qualified as a good elastic biomaterial. (83 Refs.)


Record 3

Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism [letter] Kara-Mostefa A; Raoul O; Lyonnet S; Amiel J; Munnich A; Vekemans M; Magnier S; Ossareh B; Bonnefont JP Am J Hum Genet (UNITED STATES) May 1999, 64 (5) p1475-8, ISSN 0002-9297 Languages: ENGLISH Document type: LETTER


Record 4

Cognitive dissection of Williams syndrome [letter] Wang PP Am J Med Genet (UNITED STATES) Feb 5 1999, 88 (1) p103-4, ISSN 0148-7299 Languages: ENGLISH Document type: LETTER


Record 5

Brain biochemistry in Williams syndrome: evidence for a role of the cerebellum in cognition? [letter] Chang L; Ernst T; Berman N Neurology (UNITED STATES) Mar 10 1999, 52 (4) p898-9, ISSN 0028-3878 Languages: ENGLISH Document type: LETTER


Record 6

Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. Osborne LR; Campbell T; Daradich A; Scherer SW; Tsui LC Department of Genetics and Genomic Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada. [email protected] Genomics (UNITED STATES) Apr 15 1999, 57 (2) p279-84, ISSN 0888-7543 Languages: ENGLISH Document type: JOURNAL ARTICLE

Williams-Beuren syndrome (WBS) is a complex developmental disorder involving the hemizygous deletion of genes on chromosome 7q11.23. The cardiovascular aspects of the disorder are known to be caused by haploinsufficiency for ELN, but the genes contributing to the other features of WBS are still undetermined. Fifteen genes have been shown to reside within the WBS deletion, and here we report the identification and cloning of an additional gene that is commonly deleted. WBSCR11, which was identified through genomic DNA sequence analysis and cDNA library screening, was positioned toward the telomeric end of the WBS deletion. The gene is expressed in all adult tissues analyzed, including many regions of the brain. The predicted protein displays homology to another gene from the WBS deletion, GTF2I, which is known to be a transcription factor. We postulate that WBSCR11 is also a transcription factor and may contribute to the spectrum of developmental symptoms found in WBS. Copyright 1999 Academic Press.


Record 7

Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome. Wang YK; Sporle R; Paperna T; Schughart K; Francke U Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California 94305, USA. Genomics (UNITED STATES) Apr 15 1999, 57 (2) p235-48, ISSN 0888-7543 Languages: ENGLISH Document type: JOURNAL ARTICLE

The frizzled gene family is conserved from insects to mammals and codes for putative Wnt receptors that share a cysteine-rich extracellular domain and seven transmembrane domains. We previously identified a novel frizzled gene, FZD3, now renamed FZD9, in the Williams-Beuren syndrome (WBS) deletion region at chromosomal band 7q11.23 and showed that its product can interact with the Drosophila wingless protein. Here, we report the characterization of the mouse homolog Fzd9. The Fzd9 gene produces a 2.4-kb transcript encoding a 592-amino-acid protein with 95% identity to the human FZD9. Fzd9 was mapped to the conserved syntenic region on distal mouse chromosome 5. By RNA in situ hybridization studies of whole-mount embryos and sections we delineated the temporal and spatial expressionpatterns in the neural tube, trunk skeletal muscle precursors (myotomes), limb skeletal anlagen, craniofacial regions, and nephric ducts. In adult mouse tissue, the Fzd9 transcript is abundantly present in heart, brain, testis, and skeletal muscle. In testis, Fzd9 is expressed in all spermatogenic cell types. Immunohistochemical studies of cells transfected with a Fzd9 expression construct confirm that Fzd9 is a membrane protein. These results suggest potential Wnt ligands of Fzd9, a role of Fzd9 in skeletal muscle specification, and contributions of FZD9 to the WBS phenotype. Copyright 1999 Academic Press.


Record 8

Anaesthetic management of a patient with Williams syndrome undergoing aortoplasty for supravalvular aortic stenosis. Kawahito S; Kitahata H; Kimura H; Tanaka K; Sakai Y; Hirose Y; Oshita S Department of Anaesthesiology, Tokushima University School of Medicine, Japan. [email protected] Can J Anaesth (CANADA) Dec 1998, 45 (12) p1203-6, ISSN 0832-610X Languages: ENGLISH Document type: JOURNAL ARTICLE

PURPOSE: A case of a patient associated with Williams syndrome undergoing aortoplasty for supravalvular aortic stenosis is presented. CLINICAL FEATURES: Williams syndrome is a rare disease associated with a characteristic facies, supravalvular aortic stenosis, and mental retardation. A 15-yr-old girl with Williams syndrome underwent aortoplasty for supravalvular aortic stenosis. Anaesthesia was induced with fentanyl and thiamylal, and maintained with nitrous oxide, oxygen, sevoflurane, and continuous intravenous infusion of fentanyl. Supravalvular aortic stenosis was evaluated using a multiplane transesophageal echocardiography (TEE) probe before and after repair. CONCLUSION: Multiplane TEE was found to be very useful for anaesthetic management in a patient with Williams syndrome undergoing aortoplasty for supravalvular aortic stenosis.


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