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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1996-8-26
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pubmed:databankReference |
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pubmed:abstractText |
To identify genes important for human cognitive development, we studied Williams syndrome (WS), a developmental disorder that includes poor visuospatial constructive cognition. Here we describe two families with a partial WS phenotype; affected members have the specific WS cognitive profile and vascular disease, but lack other WS features. Submicroscopic chromosome 7q11.23 deletions cosegregate with this phenotype in both families. DNA sequence analyses of the region affected by the smallest deletion (83.6 kb) revealed two genes, elastin (ELN) and LIM-kinase1 (LIMK1). The latter encodes a novel protein kinase with LIM domains and is strongly expressed in the brain. Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in imparied visuospatial constructive cognition.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0092-8674
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pubmed:author |
pubmed-author:AtkinsonD LDL,
pubmed-author:BertrandJJ,
pubmed-author:EnsingG JGJ,
pubmed-author:EverettL ALA,
pubmed-author:EwartA KAK,
pubmed-author:FrangiskakisJ MJM,
pubmed-author:GreenE DED,
pubmed-author:GutowskiN JNJ,
pubmed-author:KeatingM TMT,
pubmed-author:KleinB PBP,
pubmed-author:MervisC BCB,
pubmed-author:MorrisC ACA,
pubmed-author:NobleMM,
pubmed-author:OdelbergS JSJ,
pubmed-author:PröschelCC,
pubmed-author:RobinsonB FBF
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pubmed:issnType |
Print
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pubmed:day |
12
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pubmed:volume |
86
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
59-69
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pubmed:dateRevised |
2010-8-25
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pubmed:meshHeading |
pubmed-meshheading:8689688-Base Sequence,
pubmed-meshheading:8689688-Blotting, Northern,
pubmed-meshheading:8689688-Brain,
pubmed-meshheading:8689688-Chromosome Aberrations,
pubmed-meshheading:8689688-Chromosomes, Human, Pair 7,
pubmed-meshheading:8689688-Cognition,
pubmed-meshheading:8689688-DNA-Binding Proteins,
pubmed-meshheading:8689688-Elastin,
pubmed-meshheading:8689688-Gene Deletion,
pubmed-meshheading:8689688-Gene Expression Regulation, Developmental,
pubmed-meshheading:8689688-Humans,
pubmed-meshheading:8689688-In Situ Hybridization, Fluorescence,
pubmed-meshheading:8689688-Lim Kinases,
pubmed-meshheading:8689688-Molecular Sequence Data,
pubmed-meshheading:8689688-Phenotype,
pubmed-meshheading:8689688-Protein Kinases,
pubmed-meshheading:8689688-Protein-Serine-Threonine Kinases,
pubmed-meshheading:8689688-Sequence Analysis, DNA,
pubmed-meshheading:8689688-Visual Perception,
pubmed-meshheading:8689688-Williams Syndrome,
pubmed-meshheading:8689688-Zinc Fingers
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pubmed:year |
1996
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pubmed:articleTitle |
LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.
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pubmed:affiliation |
Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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