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Record 1Cloning, expression, and chromosomal mapping of the human 14-3-3gamma gene (YWHAG) to 7q11.23. Horie M; Suzuki M; Takahashi E; Tanigami A Otsuka GEN Research Institute, Otsuka Pharmaceutical Co., Ltd., 463-10 Kagasuno Kawauchi-cho, Tokushima, 771-0192, Japan. Genomics (UNITED STATES) Sep 1 1999, 60 (2) p241-3, ISSN 0888-7543 Languages: ENGLISH Document type: JOURNAL ARTICLE
The 14-3-3 family of proteins exerts diverse influences on the signal transduction pathways of cells. We have newly identified a human cDNA encoding the gamma subtype of the 14-3-3 family of genes. The deduced amino acid sequence of human 14-3-3gamma was identical to that of rat 14-3-3gamma. The human 14-3-3gamma gene (HGMW-approved symbol YWHAG) is highly expressed in brain, skeletal muscle, and heart. By fluorescence in situ hybridization analysis, the human 14-3-3gamma gene was mapped to chromosome 7q11.23. Radiation hybrid mapping has shown that this gene is localized 2.33 cR telomeric to D7S1870, a polymorphic marker located at the most telomeric end of the common deletion region of Williams-Beuren syndrome (WBS). This suggests that haploinsufficiency of 14-3-3gamma may not contribute to the WBS phenotype. However, information regarding the precise chromosomal location of a member of the 14-3-3 family of genes will aid in examining the relationship between this family of proteins and human disorders. Copyright 1999 Academic Press.
Record 2Visuo-spatial and linguistic abilities in a twin with Williams syndrome. Volterra V; Longobardi E; Pezzini G; Vicari S; Antenore C Institute of Psychology CNR, Rome, Italy. [email protected] J Intellect Disabil Res (ENGLAND) Aug 1999, 43 ( Pt 4) p294-305, ISSN 0964-2633 Languages: ENGLISH Document type: JOURNAL ARTICLE
The present study reports a case of dizygotic twins, one boy with Williams syndrome (WS) and one typically developing girl, and compares their neuropsychological profiles. The goal of the present authors was to verify whether the child with WS displayed a cognitive profile which is unique to the syndrome. Several tests designed to assess visuo-perceptual, visuo-motor, linguistic and memory abilities were administered to both children when they were 10.9 years old. Compared to his sister, the boy with WS displayed a homogeneous developmental delay in both non-verbal and verbal abilities. He achieved a level of performance similar to his sister only in facial recognition, phonological word fluency and memory for phonologically similar words. Furthermore, despite the overall delayed performance of the boy, both the twins displayed a cognitive profile characterized by strength in lexical comprehension and relative weakness in visuo-motor abilities.
Record 3Towards the neural basis for hypersociability in a genetic syndrome. Bellugi U; Adolphs R; Cassady C; Chiles M Laboratory for Cognitive Neuroscience, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA. Neuroreport (ENGLAND) Jun 3 1999, 10 (8) p1653-7, ISSN 0959-4965 Languages: ENGLISH Document type: CLINICAL TRIAL; JOURNAL ARTICLE
Williams syndrome (WMS), a rare disorder with a distinctive profile of medical, psychological, neurophysiological and neuroanatomical characteristics, results from hemizygous deletion of about 20 genes. The phenotype exhibits specific dissociations in higher cognitive functions: general cognitive deficits but spared linguistic abilities; extreme spatial cognitive deficits, but intact face processing. Of special interest is an unusual social phenotype in WMS: an overly friendly, engaging personality and excessive sociability with strangers. In this first experimental study of social behavior in WMS, we report that WMS subjects show an abnormal positive bias in their social judgments of unfamiliar individuals, consistent with their behavior in real life. Our findings contribute to an understanding of the neural and genetic bases of human social behavior.
Record 4Familial occurrence of idiopathic infantile hypercalcemia. McTaggart SJ; Craig J; MacMillan J; Burke JR Mater Misericordiae Hospital and Royal Children's Hospital, Brisbane, Queensland, Australia. Pediatr Nephrol (GERMANY) Oct 1999, 13 (8) p668-71, ISSN 0931-041X Languages: ENGLISH Document type: JOURNAL ARTICLE
Idiopathic infantile hypercalcemia (IIH) is a rare cause of hypercalcemia in the 1st year of life and was initially considered part of a spectrum encompassing vitamin D intoxication, Williams syndrome, and idiopathic hypercalcemia. Identification of the gene for Williams syndrome now allows a clear separation of IIH from Williams syndrome. The inheritance and pathogenesis of IIH remains largely unknown, with only sporadic cases reported to date. This report describes a family with two siblings with IIH. The pedigree is consistent with autosomal recessive inheritance, but more complex inheritance is suggested by the occurrence of hypercalciuria in a number of family members. Although one affected patient demonstrated elevated 1,25-dihydroxyvitamin D(3) levels, no conclusions regarding the pathogenesis of this condition could be drawn.
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