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Record 1Genetics and cardiac anomalies: the heart of the matter. Prasad Chitra; Chudley Albert E Department of Pediatrics, Children's Hospital, Winnipeg, Canada. [email protected] Indian journal of pediatrics (India) Apr 2002, 69 (4) p321-32, ISSN 0019-5456 Document type: Journal Article; Review; Review, Tutorial Languages: ENGLISH Main Citation Owner: NLM Record type: Completed
The recent exponential increase in knowledge in genetics has revolutionized all aspects of medicine. The completion of the first draft of the human genome project has provided for clinicians a range and depth of information never before imagined. Over the last 25 years understanding the anatomical and physiological basis of a number of congenital cardiac anomalies has led to better care and outcome for the patients born with congenital cardiac defects. In the last decade the role of genes, their critical timing of expression, and understanding of important downstream pathways for optimizing normal development and control of the left right asymmetry have emerged. The progress in cardiac genetics has been supplemented by advances in cardiac imaging modalities leading to improvements in diagnosis of the cardiac anomalies. About 30% of all congenital heart diseases are associated with extra- cardiac malformations. Chromosomal anomalies are more common in patients with cardiac anomalies than the general population. Presence of facial dysmorphic features and associated extra-cardiac anomalies should alert the pediatricians to an underlying syndrome diagnosis. Newer molecular cytogenetics techniques such as fluorescence in situ hybridization (FISH) and molecular tests are now routinely utilized for confirming clinical diagnoses. In this review we have summarized clinical features and discussed the genetic basis of several syndromes (for example, 22q11 deletion syndrome, Williams syndrome, Down Syndrome, Kabuki syndrome etc.) where specific cardiac anomalies are frequently encountered. The importance of establishing an accurate clinical diagnosis cannot be over emphasized. The families need genetic counselling with accurate information on the recurrence risks. With the advent of the Internet and rapid access to information, the clinicians and the patient families can access valuable information regarding the prognosis, natural history, and clinical interventions for the affected child, and useful support groups for the family. Detection of cardiac anomalies during antenatal period warrants a genetics assessment. (64 Refs.) Record Date Created: 20020521
Record 2Restenosis and pseudoaneurysm formation after stent placement for aortic coarctation in Williams syndrome. Apostolopoulou Sotiria C; Kelekis Nikolaos L; Laskari Cleo; Kaklamanis Loukas; Rammos Spyridon Journal of vascular and interventional radiology : JVIR (United States) May 2002, 13 (5) p547-8, ISSN 1051-0443 Document type: Letter Languages: ENGLISH Main Citation Owner: NLM Record type: Completed Record Date Created: 20020508
Record 3WSTF-ISWI chromatin remodeling complex targets heterochromatic replication foci. Bozhenok Ludmila; Wade Paul A; Varga-Weisz Patrick Marie Curie Research Institute, Oxted, Surrey RH8 0TL, UK. EMBO journal (England) May 1 2002, 21 (9) p2231-41, ISSN 0261-4189 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: Completed
The Williams Syndrome Transcription Factor (WSTF), the product of the WBSCR9 gene, is invariably deleted in the haploinsufficiency Williams-Beuren Syndrome. Along with the nucleosome-dependent ATPase ISWI, WSTF forms a novel chromatin remodeling complex, WICH (WSTF-ISWI chromatin remodeling complex), which is conserved in vertebrates. The WICH complex was purified to homogeneity from Xenopus egg extract and was found to contain only WSTF and ISWI. In mouse cells, WSTF interacts with the SNF2H isoform of ISWI. WSTF accumulates in pericentric heterochromatin coincident with the replication of these structures, suggesting a role for WSTF in the replication of heterochromatin. Such a role is supported by the in vitro activity of both the mouse and frog WICH complexes: they are involved in the assembly of regular spaced nucleosomal arrays. In contrast to the related ISWI-interacting protein ACF1/WCRF180, WSTF binds stably to mitotic chromosomes. As dysfunction of other chromatin remodeling factors often has severe effects on development, haploinsufficiency of WSTF may explain some of the phenotypes associated with this disease. Record Date Created: 20020430
Record 4Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. Doll A; Grzeschik K H Zentrum fur Humangenetik der Universitat Marburg, Marburg, Germany. [email protected] Cytogenetics and cell genetics (Switzerland) 2001, 95 (1-2) p20-7, ISSN 0301-0171 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: Completed
Williams-Beuren syndrome (WBS), due to a contiguous gene deletion of approximately 1.5 Mb at 7q11.23, is a complex developmental disorder with multisystemic manifestations including supravalvular aortic stenosis (SVAS) and a specific cognitive phenotype. Large repeats containing genes and pseudogenes flank the deletion breakpoints, and the mutation mechanism commonly appears to be unequal meiotic crossover. Except for elastin, hemizygosity of which is associated with supravalvular aortic stenosis, it is unknown which of the 18 genes in the deletion area contributes to the phenotype. Here, we report the identification and characterization of two novel genes, WBSCR20 and WBSCR22, which map to the common WBS deletion region. WBSCR22 encodes a putative methyltransferase protein strongly expressed in heart, skeletal muscle and kidney. WBSCR20 encodes a novel protein expressed in skeletal muscle with similarity to p120 (NOL1), a 120-kDa proliferation-associated nucleolar antigen, a member of an evolutionarily conserved protein family. A highly similar putative gene, WBSCR20B, flanks the WBS deletion at the telomeric side. Hemizygous deletion of either of the novel genes might contribute to the growth retardation, the myopathy or the premature aging effects in the pathogenesis of WBS. Copyright 2002 S. Karger AG, Basel Record Date Created: 20020429
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