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Record 1[Congenital heart disease and nuchal translucency with normal karyotype. Report of 3 cases] Cardiopathie congenitale et clarte nucale avec caryotype normal. A propos de 3 cas. Gicquel JM; Potier A; Camillieri JF; Grinneiser D; Rouault F Centre Hospitalier, Draguignan. J Gynecol Obstet Biol Reprod (Paris) (FRANCE) Oct 1998, 27 (6) p625-8, ISSN 0368-2315 Languages: FRENCH Summary Languages: ENGLISH Document type: JOURNAL ARTICLE English Abstract
We report three pregnancies where enlarged nuchal translucency was discovered at the first trimester transvaginal ultrasound examination; congenital heart disease developed later. Two cases of hypoplastic left heart were diagnosed prenatally at the mid-trimester sonographic examination. The pregnancies were terminated. In the third case, a supravalvular pulmonary stenosis was discovered on the second day of life. Further investigations demonstrated a mutation on the elastin locus, thus confirming the diagnosis of Williams-Beuren syndrome. The role of nuchal translucency as a risk marker for congenital heart disease is discussed.
Record 2A novel human gene, WSTF, is deleted in Williams syndrome. Lu X; Meng X; Morris CA; Keating MT Department of Human Genetics, University of Utah, Salt Lake City, Utah, 84112, USA. Genomics (UNITED STATES) Dec 1 1998, 54 (2) p241-9, ISSN 0888-7543 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams syndrome (WS) is a developmental disorder caused by deletion of multiple genes at chromosome 7q11.23. Here, we report the identification and characterization of a novel gene, WSTF, that maps to the common WS deletion region. WSTF encodes a novel protein of 1425 amino acids with unknown function. It contains one PHD-type zinc finger motif followed by a bromodomain. Both motifs are found in many transcription regulators, suggesting that WSTF may function as a transcription factor. WSTF is ubiquitously expressed in both adult and fetal tissues. The WSTF gene consists of 20 exons spanning about 80 kb. Fluorescence in situ hybridization analysis shows that WSTF is deleted in 50/50 WS individuals. Hemizygous deletion of WSTF may contribute to WS. Copyright 1998 Academic Press.
Record 3Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Meng X; Lu X; Li Z; Green ED; Massa H; Trask BJ; Morris CA; Keating MT Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112, USA. Hum Genet (GERMANY) Nov 1998, 103 (5) p590-9, ISSN 0340-6717 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams syndrome (WS) is a contiguous gene deletion disorder caused by haploinsufficiency of genes at 7q11.23. We have shown that hemizygosity of elastin is responsible for one feature of WS, supravalvular aortic stenosis (SVAS). We have also implicated LIM-kinase 1 hemizygosity as a contributing factor to impaired visual-spatial constructive cognition in WS. However, the common WS deletion region has not been completely characterized, and genes for additional features of WS, including mental retardation, infantile hypercalcemia, and unique personality profile, are yet to be discovered. Here, we present a physical map encompassing 1.5 Mb DNA that is commonly deleted in individuals with WS. Fluorescence in situ hybridization analysis of 200 WS individuals shows that WS individuals have the consistent deletion interval. In addition, we identify three novel genes from the common deletion region: WS-betaTRP, WS-bHLH, and BCL7B. WS-betaTRP has four putative beta-transducin (WD40) repeats, and WS-bHLH is a novel basic helix-loop-helix leucine zipper (bHLHZip) gene. BCL7B belongs to a novel family of highly conserved genes. We describe the expression profile and genomic structure for each of these genes. Hemizygous deletion of one or more of these genes may contribute to developmental defects in WS.
Record 4The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region. Hoogenraad CC; Eussen BH; Langeveld A; van Haperen R; Winterberg S; Wouters CH; Grosveld F; De Zeeuw CI; Galjart N MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, 3000 DR, The Netherlands. Genomics (UNITED STATES) Nov 1 1998, 53 (3) p348-58, ISSN 0888-7543 Languages: ENGLISH Document type: JOURNAL ARTICLE
Cytoplasmic linker proteins (CLIPs) have been proposed to mediate the interaction between specific membranous organelles and microtubules. We have recently characterized a novel member of this family, called CLIP-115. This protein is most abundantly expressed in the brain and was found to associate both with microtubules and with an organelle called the dendritic lamellar body. CLIP-115 is highly homologous to CLIP-170, or restin, which is a protein involved in the binding of endosomes to microtubules. Using the rat cDNA as a probe we have isolated overlapping cosmids containing the complete murine and part of the human CYLN2 (cytoplasmic linker-2) genes, which encode CLIP-115. The murine gene spans 60 kb and consists of 17 exons, and its promoter is embedded in a CpG island. Murine CYLN2 maps to the telomeric end of mouse chromosome 5. The human CYLN2 gene is localized to a syntenic region on chromosome 7q11.23, which is commonly deleted in Williams syndrome. It spans at least 140 kb at the 3' end of the deletion. Human CYLN2 is very likely identical to the previously characterized, incomplete WSCR4 and WSCR3 transcription units. Copyright 1998 Academic Press.
Record 5Syntax and morphology in Williams syndrome. Clahsen H; Almazan M Department of Linguistics, University of Essex, Colchester, UK. [email protected] Cognition (NETHERLANDS) Sep 1998, 68 (3) p167-98, ISSN 0010-0277 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams syndrome (WS) is a neuro-developmental disorder which is characterized by an unusual fractionation of language abilities and other cognitive functions. We have investigated four cases of English-speaking subjects with WS, and we show that despite their low IQs the WS children's performance on syntactic tasks and on regular inflection is not impaired. Irregular inflection, however, is affected causing many errors. We also report results from studies investigating the same linguistic phenomena in children with specific language impairment. These children exhibit a different pattern of impairment, with relatively poor performance on syntactic tasks and regular inflection. We suggest a linguistic characterization of the morphosyntax in WS according to which WS subjects are impaired in accessing (particular kinds of) information from lexical entries, with their computational system for language appearing to be intact. We interpret the selective impairments found in WS and SLI as supporting the theoretical distinction between a computational system and an associative memory system for language.
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