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LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition
- Source :
- Cell. 86(1)
- Publication Year :
- 1996
-
Abstract
- 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 impaired visuospatial constructive cognition.
- Subjects :
- Williams Syndrome
Molecular Sequence Data
Hemizygosity
LIMK1
Biology
Protein Serine-Threonine Kinases
General Biochemistry, Genetics and Molecular Biology
03 medical and health sciences
0302 clinical medicine
Cognition
medicine
Humans
In Situ Hybridization, Fluorescence
030304 developmental biology
LIM domain
Genetics
Chromosome Aberrations
0303 health sciences
Base Sequence
Biochemistry, Genetics and Molecular Biology(all)
Brain
Gene Expression Regulation, Developmental
Lim Kinases
Zinc Fingers
Sequence Analysis, DNA
medicine.disease
Blotting, Northern
Impaired visuospatial constructive cognition
Phenotype
Elastin
Developmental disorder
DNA-Binding Proteins
Visual Perception
Williams syndrome
Protein Kinases
030217 neurology & neurosurgery
Chromosomes, Human, Pair 7
Gene Deletion
Subjects
Details
- ISSN :
- 00928674
- Volume :
- 86
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Cell
- Accession number :
- edsair.doi.dedup.....b835dd9231df53e1bd9eebf654bffa63