Get your own Free Home PageRecord 1Behavioral phenotypes: conceptual and methodological issues. Flint J Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom. [email protected] Am J Med Genet (UNITED STATES) May 8 1998, 81 (3) p235-40, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE
Specific behavioral patterns associated with chromosomal and genetic disorders are being recognized more frequently. The hope is that the demonstration of a behavioral phenotype with a particular syndrome may lead to the isolation of the behavior's genetic determinants. Three issues are considered here: the problem of defining a behavioral phenotype, the difficulty of demonstrating the existence of a behavioral phenotype, and the likelihood of characterizing etiologically important genes. Although there are many impediments to success, the value of recognizing behavioral phenotypes within a diagnostic syndrome is emphasized, and examples are given of how this may lead to isolating behavioral genes.
Record 2Adults with Williams syndrome. Preliminary study of social, emotional and behavioural difficulties. Davies M; Udwin O; Howlin P Psychology Department, St George's Hospital Medical School, London. Br J Psychiatry (ENGLAND) Mar 1998, 172 p273-6, ISSN 0007-1250 Languages: ENGLISH Document type: JOURNAL ARTICLE
BACKGROUND: In recent years there has been an upsurge of interest in the study of distinctive patterns of behavioural and psychological characteristics associated with specific, biologically determined, intellectually disabling conditions. This study investigates whether such a profile can be identified in adults with Williams syndrome. METHOD: Parents and other care-givers were interviewed about the social, emotional and behavioural characteristics of 70 adults with Williams syndrome, aged 19 years to 39 years 9 months. RESULTS: The adults were reported to have high rates of behavioural and emotional difficulties, particularly in terms of poor social relationships, over-friendliness and social disinhibition, preoccupations and obsessions, and high levels of anxiety and distractibility. CONCLUSIONS: The findings provide preliminary support for the existence of a specific pattern of behavioural and personality characteristics and associated difficulties in adults with Williams syndrome, which persist from childhood and often require intervention from mental health professionals. Implications for clinical practice are considered.
Record 3Persistent left superior vena cava. Discovered during placement of central venous catheter. Chandra A; Reul GJ Jr Department of Cardiovascular Surgery, Texas Heart Institute, Houston 77030, USA. Tex Heart Inst J (UNITED STATES) 1998, 25 (1) p90, ISSN 0730-2347 Languages: ENGLISH Document type: JOURNAL ARTICLE
Record 4A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region. Wang YK; Perez-Jurado LA; Francke U Howard Hughes Medical Institute, Stanford University Medical Center, California 94305, USA. Genomics (UNITED STATES) Mar 1 1998, 48 (2) p163-70, ISSN 0888-7543 Languages: ENGLISH Document type: JOURNAL ARTICLE
We have cloned and characterized Gtf2i, the mouse homolog of human GTF2I (general transcription factor II-I), which encodes BAP-135, a target for Bruton's tyrosine kinase. GTF2I represents the telomeric and functional copy of a duplicated gene flanking the 2-Mb Williams-Beuren syndrome (WBS) common deletion at 7q11.23. GTF2I is deleted in WBS, while a truncated centromeric pseudogene (GTF2IP1) is not deleted. In mouse, there appears to be only a single locus, Gtf2i, which we mapped to mouse chromosome 5 in a region of conserved mouse-human synteny. Gtf2i is 87.7% identical to GTF2I at the nucleotide and 97% at the amino acid level and generates several alternatively spliced transcripts. The gene is widely expressed in adult tissues and equally in all areas of the brain. Gtf2i transcript is detectable in ES cells by RT-PCR and on Northern blots of tissues from 7-dpc embryos. A ubiquitous expression pattern is seen by Northern and tissue in situ hybridization studies of 14-dpc embryos.
Record 5[William's syndrome. Report of a case with family involvement] Sindrome de Williams. Presentacion de un caso de afectacion familiar. Onis Vilches MC; Rubio Cuadrado MV; Martinez de la Iglesia J; Lopez Granados A Centro de Salud Occidente, Hospital Universitario Reina Sofia, Cordoba. Rev Clin Esp (SPAIN) Feb 1998, 198 (2) p91-4, ISSN 0014-2565 Languages: SPANISH Summary Languages: ENGLISH Document type: JOURNAL ARTICLE English Abstract
Williams' syndrome (WS) is a rare genetic condition of autosomal dominant inheritance with varying penetrance, which consists of supravalvular aortic stenosis, a characteristic dysmorphic facies named "elf face", mental retardation and other clinical manifestations including transient infantile idiopathic hypercalcemia, growth retardation, and frequent dental problems. It usually presents sporadically, and there are only a few cases of family involvement reported in the literature. Recent studies show that mutations in the elastin gene at chromosome 7q11.23, which occur approximately in 90% of cases, could be the cause of the different clinical manifestations in this syndrome. In this paper we report a case of family involvement with five family members involved with WS (three siblings, the mother, and the siblings' maternal uncle) and all had cardiac structural disorders (supravalvular aortic stenosis being the most frequent), a characteristic face and a low intellectual coefficient. The complementary tests included blood chemistry, chest X-ray, and echocardiogram, which led to the diagnosis of the associated valve pathology. Three patients required therapeutic catheterism with Stent valve implant and valve prosthetic replacement to control cardiac manifestations.
Record 6Molecular mechanisms of developmental disorders. Brodsky M; Lombroso PJ Yale University School of Medicine, USA. Dev Psychopathol (UNITED STATES) Winter 1998, 10 (1) p1-20, ISSN 0954-5794 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL
One of the central tenets of developmental psychopathology is the belief that we can learn more about normal functioning through the study of psychopathology and arrive at a better understanding of pathological conditions through investigations of normal behavior. Advances in knowledge from one area will inform us regarding mechanisms at work in the other. A similar perspective is the driving force behind recent scientific advances in our understanding of certain developmental disorders. In this paper, molecular findings for four developmental disorders are reviewed: Prader-Willi syndrome, fragile X syndrome, Williams syndrome, and lissencephaly. These disorders were chosen for discussion because putative genes for each of them have been isolated. The ways in which mutations within these genes disrupt normal cognitive and behavioral functioning are discussed. Although considerable progress has been achieved in understanding the genetic mechanisms for these illnesses, much more research is needed to identify the environmental and genetic factors that interact to contribute to the expression of the more complex behavioral disorders. (70 Refs.)
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