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Record 1Increased gyrification in Williams syndrome: evidence using 3D MRI methods. Schmitt J Eric; Watts Katie; Eliez Stephan; Bellugi Ursula; Galaburda Albert M; Reiss Allan L Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, CA 94305-5719, USA. Developmental medicine and child neurology (England) May 2002, 44 (5) p292-5, ISSN 0012-1622 Document type: Clinical Trial; Controlled Clinical Trial; Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: Completed
Understanding patterns of gyrification in neurogenetic disorders helps to uncover the neurodevelopmental etiology underlying behavioral phenotypes. This is particularly true in Williams syndrome (WS), a condition caused by de novo deletion of approximately 1 to 2 Mb in the 7q11.23 region. Individuals with WS characteristically possess an unusual dissociation between deficits in visual-spatial ability and relative preservations in language, music, and social drive. A preliminary postmortem study reported anomalous gyri and sulci in individuals with WS. The present study examined gyrification patterns in 17 participants with WS (10 females, 7 males; mean age 28 years 11 months, SD 8 years 6 months) and 17 age- and sex-matched typically developing control participants (mean age 29 years 1 month, SD 8 years 1 month) using new automated techniques in MRI. Significantly increased cortical gyrification was found globally with abnormalities being more marked in the right parietal (p=0.0227), right occipital (p=0.0249), and left frontal (p=0.0086) regions. These results suggest that one or more genes in the 7q11.23 region are involved during the critical period when cortical folding occurs, and may be related to the hypothesized dorsal/ventral dissociation in this condition. Record Date Created: 20020529
Record 2Williams syndrome--does early diagnosis matter? Kaplan Paige Clinical pediatrics (United States) May 2002, 41 (4) p277-80, ISSN 0009-9228 Journal Code: 0372606 Document type: Editorial Languages: ENGLISH Main Citation Owner: NLM Record type: In Process Record Date Created: 20020603
Record 3Delay in diagnosis of Williams syndrome. Huang Lennox; Sadler Laurie; O'Riordan Mary Ann; Robin Nathaniel H Department of Pediatrics, University Hospitals of Cleveland, Case Western Reserve University School of Medicine, OH, USA. Clinical pediatrics (United States) May 2002, 41 (4) p257-61, ISSN 0009-9228 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: In Process
Williams syndrome (WS) is a well-known genetic disorder with a variable phenotype. In many cases, physical manifestations are subtle and may not be apparent at an early age, making diagnosis difficult in infants and young children who lack classic manifestations such as supravalvular aortic stenosis and hypercalcemia. Clinical suspicion is essential because the diagnostic genetic finding is not detectable on routine chromosomal analysis. Furthermore, early diagnosis allows for earlier detection and treatment of developmental, behavioral, and medical problems. In an effort to understand how and why individuals with WS are diagnosed, we conducted a survey-based study of parents of WS children. Packets containing a cover letter, consent form, parental survey and preaddressed stamped envelope were distributed to parents of children with WS. The survey included questions concerning initial diagnosis, WS findings present, medical specialists involved, and tests performed. Forty-six completed surveys were returned for analysis. The mean age at diagnosis was 3.66 years (SD 4.13). The mean age at which there were initial concerns was 0.98 year (SD 1.24) resulting in a mean delay in diagnosis of 2.77 years (SD 4.10). In addition, the involvement of a geneticists correlated with earlier diagnosis (2.26 years vs. 5.09 years without geneticist involvement, p = 0.03) and fewer tests ordered (5.2 vs. 8.2 in the nongeneticist group, p = 0.0006). We observed a significant delay in the diagnosis of WS. Of note, the involvement of a geneticist was associated with earlier diagnosis and reduced number of tests. Record Date Created: 20020603
Record 4Narrative analysis in developmental social and linguistic pathologies: dissociation between emotional and informational language use. Pearlman-Avnion Shiri; Eviatar Zohar Institute of Information Processing and Decision Making, University of Haifa, Israel. [email protected] Brain and cognition (United States) Mar-Apr 2002, 48 (2-3) p494-9, ISSN 0278-2626 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: In Process
This study examined the use of emotional and informational aspects of language in populations that demonstrate developmental social-emotional and linguistic pathologies. We tested high-functioning autistic (HFA) individuals because this group reveals deficiencies in social-emotional and informative aspects of language as well as abnormalities in sociability. We tested Williams syndrome (WS) individuals because of the claim that the social-emotional aspects of language use and sociability are differentially preserved in the context of mental retardation. We compared the performance of these two groups with two groups of control children (7- and 11-year-olds). All of the participants viewed a slide show depicting an event and were asked to retell the story. These narratives were coded for emotional and informational elements. The results showed that on measures of emotional elements, the WS group patterned with the control groups and only the HFA participants received lower scores, while on the informational elements, the two pathological groups did not differ, and both were lower than the controls. The results suggest that the preservation of language among WS individuals is specific for the emotional aspects of language. Record Date Created: 20020527
Record 5Inflectional morphology in German Williams syndrome. Krause Marion; Penke Martina Institut fuer Sprache und Information, Universitaet Duesseldorf, Germany. [email protected] Brain and cognition (United States) Mar-Apr 2002, 48 (2-3) p410-3, ISSN 0278-2626 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: In Process In a recent paper, Clahsen and Almazan (1998) reported a dissociation between unimpaired regular and impaired irregular past tense morphology in English Williams syndrome (WS). Our aim is to investigate whether these findings carry over to another language with different morphological systems. We present data on regular and irregular participles and noun plurals from 2 German WS subjects and 10 controls matching in mental age. For noun plurals, regular morphology is intact in WS, whereas irregular forms are impaired. A similar dissociation is observed for participles: while regular inflection is unimpaired, WS subjects, unlike controls, apply the regular suffix incorrectly to frequent irregular verbs. We discuss our findings against the current debate between connectionist and dualistic approaches to the language faculty. Record Date Created: 20020527
Record 6Supravalvular aortic stenosis and peripheral pulmonary stenosis coexisting with a straight thoracic spine. Uechi Yoichi; Kaneshiro Kuniaki Department of Internal Medicine, Okinawa Prefectural Nanbu Hospital, Itoman City, Japan. Circ J (Japan) May 2002, 66 (5) p516-8, ISSN 1346-9843 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: In Process
Supravalvular aortic stenosis (SVAS) is recognized in cases of Williams syndrome and in sporadic cases not associated with other features of the syndrome. It is also well recognized as associated with peripheral pulmonary stenosis (PPS). A male patient was diagnosed as having PPS at the age of 1 year and 8 months, and was found at the age of 18 years to have SVAS. Cardiac catheterization showed that he had a localized type of SVAS and regression of the PPS. Chest X-ray showed that he did not have the normal thoracic curvature. His 19-year-old sister had also been diagnosed with PPS, and his 43-year-old mother was known to have a harsh systolic cardiac murmur of unknown etiology. Cardiac magnetic resonance imaging showed a localized type of SVAS in his mother also, though not in his sister, both of whom had a somewhat straight thoracic spine, most noticeably in the mother, though not to the degree observed in the patient. This case appears to be familial, though it is not clear whether this skeletal abnormality is an unknown phenotypic feature of this cardiovascular disease. Record Date Created: 20020527
Record 7Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients. Wu Yuan-Qing; Bejjani Bassem A; Tsui Lap-Chee; Mandel Ariane; Osborne Lucy R; Shaffer Lisa G Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. American journal of medical genetics (United States) Apr 22 2002, 109 (2) p121-4, ISSN 0148-7299 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: In Process
Williams syndrome (WS) is a contiguous gene deletion disorder in which the commonly deleted region contains at least 17 genes. One of these genes, Syntaxin 1A (STX1A), codes for a protein that is highly expressed in the nervous system and is essential for the docking of synaptic vesicles with the presynaptic plasma membrane. In this study, we refine the complete genomic structure of the human STX1A gene by direct sequencing and primer walking of bacterial artificial chromosome (BAC) clones and show that STX1A contains at least 10 exons and 9 introns. The length of exons range from 27 bp to 138 bp and all splice sites conform to the GT-AG rule. Investigation of the STX1A gene sequence in five WS patients without detectable deletions did not identify any point mutations. Although the regulatory elements that control STX1A transcription were not examined, these results do not support a role for STX1A in the WS phenotype. Copyright 2002 Wiley-Liss, Inc. Record Date Created: 20020523
Record 8Genetics 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 Languages: ENGLISH Main Citation Owner: NLM Record type: In Process
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. Record Date Created: 20020521
Record 9Genomic organization of the genes Gtf2ird1, Gtf2i, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region. Bayarsaihan Dashzeveg; Dunai Judit; Greally John M; Kawasaki Kazuhiko; Sumiyama Kenta; Enkhmandakh Badam; Shimizu Nobuyoshi; Ruddle Frank H Department of Molecular, Cellular and Developmental Biology, Yale University, New Haven, CT 06520, USA. Genomics (United States) Jan 2002, 79 (1) p137-43, ISSN 0888-7543 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: Completed
We have recently isolated a mouse ortholog of human GTF2IRD1 that is related to GTF2I. GTF2IRD1 and GTF2I proteins are characterized by the presence of multiple helix-loop-helix domains and a leucine zipper motif. Both paralogs are closely linked and deleted hemizygously in individuals with Williams syndrome, a dominant genetic condition characterized by unique neurocognitive and behavioral features. We have isolated and analyzed the sequence of bacterial artificial chromosome clones from the syntenic mouse chromosome 5 region that contains Gtf2ird1 and Gtf2i as well as a neighboring gene, Ncf1. Gtf2ird1 is composed of 31 exons spanning >100 kb on mouse chromosome 5 and is located between Cyln2 and Gtf2i. Gtf2i is composed of 34 exons spanning about 77 kb. Ncf1, located downstream of Gtf2i, consists of 11 exons that extend over 8 kb. The gene organization of Gtf2ird1, Gtf2i, and Ncf1 is conserved in mice and humans, although the intronic regions are more compact in the mouse genome. The helix-loop-helix repeats of Gtf2ird1 and Gtf2i are encoded separately on adjacent exons and were generated by independent genomic rearrangements. These studies contribute to our knowledge of transcription factor defects and their pathogenesis in haploinsufficiency conditions. Record Date Created: 20020205
Record 10The role of a Williams-Beuren syndrome-associated helix-loop-helix domain-containing transcription factor in activin/nodal signaling. Ring Colleen; Ogata Souichi; Meek Lauren; Song Jihwan; Ohta Tatsuru; Miyazono Kohei; Cho Ken W Y Department of Developmental and Cell Biology, and Developmental Biology Center, University of California, Irvine, California 92697-2300, USA. Genes & development (United States) Apr 1 2002, 16 (7) p820-35, ISSN 0890-9369 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: Completed
We investigated the regulation of the activin/nodal-inducible distal element (DE) of the Xenopus goosecoid (gsc) promoter. On the basis of its interaction with the DE, we isolated a Xenopus homolog of the human Williams-Beuren syndrome critical region 11 (XWBSCR11), and further, show that it interacts with pathway-specific Smad2 and Smad3 in a ligand-dependent manner. Interestingly, we also find that XWBSCR11 functions cooperatively with FoxH1 (Fast-1) to stimulate DE-dependent transcription. We propose a mechanism in which FoxH1 functions together with Smads as a cofactor for the recruitment of transcription factors like XWBSCR11 in the process of activin/nodal-mediated gsc-specific induction. This mechanism provides considerable opportunities for modulation of transcription across a variety of activin/nodal-inducible genes, increasing diversity in promoter selection, thus leading to the differential induction of activin/nodal target genes. Record Date Created: 20020408
Record 11Restenosis and pseudoaneurysm formation after stent placement for aortic coarctation in williams syndrome. Apostolopoulou Sotiria C; Kelekis Nikolaos L; Laskari Cleo; Kaklamanis Loukas; Rammos Spyridon Departments of Pediatric Cardiology (S.C.A., C.L., S.R.) and Pathology (L.K.) Onassis Cardiac Surgery Center 356 Syngrou Avenue Athens, GR 17674, Greece Department of Radiology (N.L.K.) Medical School University of Thessalia Larissa, Greece. Journal of vascular and interventional radiology : JVIR (United States) May 2002, 13 (5) p547-8, ISSN 1051-0443 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: In Process Record Date Created: 20020508
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