Williams Syndrome Medline Alert - February 2000

From the Medical Literature - February 2000


Record  1

Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21. Kirikoshi H; Sagara N; Koike J; Tanaka K; Sekihara H; Hirai M; Katoh M Genetics Division, National Cancer Center Research Institute, Tsukiji 5-chome, Tokyo, Chuo-ku, 104-0045, Japan. Biochem Biophys Res Commun (UNITED STATES) Nov 2 1999, 264 (3) p955-61, ISSN 0006-291X Languages: ENGLISH Document type: JOURNAL ARTICLE

The WNT receptors, encoded by the Frizzled genes, are implicated in a variety of cellular processes such as cell fate determination, cell polarity control, and malignant transformation. Human Frizzled-4 (FZD4) cDNAs have been cloned and characterized. FZD4 spans a total of 7392 nucleotides and encodes a 537-amino-acid protein with the N-terminal cysteine-rich domain, seven transmembrane domains, and the C-terminal S/T-X-V motif. The FZD4 mRNA of 7.7 kb in size were detected almost ubiquitously in normal human tissues and larger amounts in fetal kidney, adult heart, skeletal muscle, and ovary. Among cancer cell lines, the FZD4 mRNA level was higher in HeLa S3. The FZD4 gene has been mapped to human chromosome 11q14-q21. FZD4 is homologous to FZD9 and FZD10, and overall amino acid identity is as follows: FZD4 vs FZD9, 51.6%; FZD4 vs FZD10, 51.2%; FZD9 vs FZD10, 65.7%. FZD4 consists of two exons, while FZD9 and FZD10 consist of a single exon. FZD4 might belong to rather the independent FZD subfamily than the FZD9-FZD10 subfamily. Copyright 1999 Academic Press.


Record 2

Skin elastic fibers in Williams syndrome. Dridi SM; Ghomrasseni S; Bonnet D; Aggoun Y; Vabres P; Bodemer C; Lyonnet S; de Prost Y; Fraitag S; Pellat B; Sidi D; Godeau G Laboratory of Physiopathology of non mineralized tissues, Faculte de Chirurgie Dentaire, Montrouge, France. Am J Med Genet (UNITED STATES) Nov 19 1999, 87 (2) p134-8, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE

The elastin gene is consistently deleted in Williams syndrome and as this protein represents the major component of the elastic fibers of the dermis, we sought to investigate skin elastic fibers in Williams syndrome as a key to unraveling extracellular matrix disorganization in this condition. Both morphometric parameters analyzed by using automated image analysis and immunofluorescence labeling with monoclonal antibodies against elastin and fibrillin 1 showed a disorganized pre-elastic (oxytalan and elaunin) and mature elastic fibers in the dermis of 10 Williams syndrome patients compared with five healthy children and one patient with isolated supravalvular aortic stenosis. Skin biopsies in Williams syndrome patients provide a simple mean to elucidate extracellular matrix anomalies. Hopefully, this method could give clues to the understanding of the elastic network anomalies in this condition and even to the consequences of these latter on elasticity and resilience of other tissues such as the arterial tree. Copyright 1999 Wiley-Liss, Inc.


Record 3

Toward an understanding of the cause of mitral valve prolapse [editorial; comment] Towbin JA Am J Hum Genet (UNITED STATES) Nov 1999, 65 (5) p1238-41, ISSN 0002-9297 Journal Code: 3IM Comment on Am J Hum Genet 1999 Nov;65(5):1242-51 Languages: ENGLISH Document type: COMMENT; EDITORIAL


Record 4

10213461 99452582 Visuospatial construction. Mervis CB; Robinson BF; Pani JR Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY, USA. [email protected] Am J Hum Genet (UNITED STATES) Nov 1999, 65 (5) p1222-9, ISSN 0002-9297 Journal Code: 3IM Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL (37 Refs.)


Record 5

Precocious puberty in a Williams syndrome patient. Douchi T; Maruta K; Kuwahata R; Nagata Y Department of Obstetrics and Gynecology, Faculty of Medicine, Kagoshima University, Japan. Obstet Gynecol (UNITED STATES) Nov 1999, 94 (5 Pt 2) p860, ISSN 0029-7844 Languages: ENGLISH Document type: JOURNAL ARTICLE


Record 6

Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears. Novelli A; Sabani M; Caiola A; Digilio MC; Giannotti A; Mingarelli R; Novelli G; Dallapiccola B Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy. Mol Cell Probes (ENGLAND) Aug 1999, 13 (4) p303-7, ISSN 0890-8508 Languages: ENGLISH Document type: JOURNAL ARTICLE

We describe the use of a FISH protocol for detecting chromosome microdeletions in peripheral blood smear leukocytes. This method has the advantage of a smaller sample requirement than classical metaphase chromosome analysis and the potential for analysis of a larger number of chromosome microdeletions using a routine blood smear. A selected series of 10 DiGeorge syndrome (DGS) and 12 Williams-Beuren syndrome (WBS) patients were correctly diagnosed by this method confirming results obtained by molecular cytogenetic metaphases. These results support effectiveness of interphase FISH analysis on peripheral blood smears as a focused, single-step method for the detection of chromosome microdeletions. Copyright 1999 Academic Press.


Record 7

Concomitant reentrant tachycardias from concealed accessory atrioventricular bypass tract and atrioventricular nodal reentry in a patient with Williams syndrome. Kantharia BK; Mittleman RS Division of Cardiac Electrophysiology, University of Massachusetts Medical Center, Worcester, MA, USA. [email protected] Cardiology (SWITZERLAND) 1999, 91 (4) p264-7, ISSN 0008-6312 Languages: ENGLISH Document type: JOURNAL ARTICLE

Williams syndrome is characterized by a constellation of features including mental retardation and supravalvular aortic stenosis. Other cardiovascular abnormalities including arrhythmias contributing to sudden death have been described in these patients. In this report we describe a case of a 49-year-old female with Williams syndrome who presented with severe symptomatic supraventricular tachycardia. Cardiac electrophysiology study identified a left posteroseptal concealed accessory bypass tract responsible for atrioventricular reentrant tachycardia and a concomitant typical atrioventricular nodal tachycardia. Such unusual association of combination of two different types of supraventricular tachycardia and Williams syndrome has not been previously reported. Radiofrequency ablation was successfully performed to cure these arrhythmias.


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