Title:
Diagnosis of Williams syndrome cognitive profile by analysis of a LIM-kinase gene
Document Type and Number:
WIPO Patent Application WO1998001740
Kind Code:
A3
Abstract:
Williams syndrome (WS) is a developmental disorder that includes poor visuospatial constructive cognition. This syndrome has been studied to identify genes important for human cognitive development. Two families are described which have 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 (83.6 kb) deletion revealed two genes, elastin (ELN) and LIM-kinasel (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.
More Like This:
Inventors:
KEATING MARK T (US)
MORRIS COLLEEN A (US)
MORRIS COLLEEN A (US)
Application Number:
PCT/US1997/011687
Publication Date:
February 12, 1998
Filing Date:
July 07, 1997
Export Citation:
Assignee:
UNIV UTAH RES FOUND (US)
International Classes:
A61K31/00; C07K14/78; C12Q1/68; A61B17/22; (IPC1-7): G01N33/00
Other References:
NATURE GENETICS, July 1996, Vol. 13, TASSABEHJI et al., "LIM-Kinase Deleted in Williams Syndrome", pages 272-273.
AM. J. HUM. GENET., 1995, Vol. 57, LOWERY et al., "Strong Correlation of Elastin Deletions, Detected by FISH, with Williams Syndrome: Evaluation of 235 Patients", pages 49-53.
NATURE GENETICS, September 1993, Vol. 5, EWART et al., "Hemizygosity at the Elastin Locus in a Developmental Disorder, Williams Syndrome", pages 11-16.
MECHANISMS OF DEVELOPMENT, August 1995, Vol. 52, Nos 2-3, CHENG et al., "Murine LIM-Kinase Gene (Limk) Encodes a Novel Serine Threonine Kinase Expressed Predominantly in Trophoblast Giant Cells and the Developing Nercous System", pages 187-197.
ONCOGENE, June 1994, Vol. 9, No. 6, MIZUNO et al., "Identification of a Human cDNA Encoding a Novel protein Kinase with Two Repeats of the LIM/Double Zinc Finger Motif", pages 1605-1612.
CELL, 09 April 1993, Vol. 73, CURRAN et al., "The Elastin Gene is Disrupted by a Translocation Associated with Supravalvular Aortic Stenosis", pages 159-168.
PROC. NATL. ACAD. SCI. U.S.A., April 1993, Vol. 90, EWART et al., "A Human Vascular Disorder, Supravalvular Aortic Stenosis, Maps to Chromosome 7", pages 3226-3230.
THE JOURNAL OF CLINICAL INVESTIGATION, March 1994, Vol. 93, No. 3, EWART et al., "Supravalvular Aortic Stenosis Associated with a Deletion Disrupting the Elastin Gene", pages 1071-1077.
HUMAN MOLECULAR GENETICS, September 1995, Vol. 4, No. 5, OLSON et al., "A 30 kb Deletion within the Elastin Gene Results in Familial Supravalvular Aortic Stenosis", pages 1677-1679.
AM. J. HUM. GENET., 1995, Vol. 57, LOWERY et al., "Strong Correlation of Elastin Deletions, Detected by FISH, with Williams Syndrome: Evaluation of 235 Patients", pages 49-53.
NATURE GENETICS, September 1993, Vol. 5, EWART et al., "Hemizygosity at the Elastin Locus in a Developmental Disorder, Williams Syndrome", pages 11-16.
MECHANISMS OF DEVELOPMENT, August 1995, Vol. 52, Nos 2-3, CHENG et al., "Murine LIM-Kinase Gene (Limk) Encodes a Novel Serine Threonine Kinase Expressed Predominantly in Trophoblast Giant Cells and the Developing Nercous System", pages 187-197.
ONCOGENE, June 1994, Vol. 9, No. 6, MIZUNO et al., "Identification of a Human cDNA Encoding a Novel protein Kinase with Two Repeats of the LIM/Double Zinc Finger Motif", pages 1605-1612.
CELL, 09 April 1993, Vol. 73, CURRAN et al., "The Elastin Gene is Disrupted by a Translocation Associated with Supravalvular Aortic Stenosis", pages 159-168.
PROC. NATL. ACAD. SCI. U.S.A., April 1993, Vol. 90, EWART et al., "A Human Vascular Disorder, Supravalvular Aortic Stenosis, Maps to Chromosome 7", pages 3226-3230.
THE JOURNAL OF CLINICAL INVESTIGATION, March 1994, Vol. 93, No. 3, EWART et al., "Supravalvular Aortic Stenosis Associated with a Deletion Disrupting the Elastin Gene", pages 1071-1077.
HUMAN MOLECULAR GENETICS, September 1995, Vol. 4, No. 5, OLSON et al., "A 30 kb Deletion within the Elastin Gene Results in Familial Supravalvular Aortic Stenosis", pages 1677-1679.
Download PDF:
Previous Patent: In situ oil quality evaluation with an acoustic sensor
Next Patent: APPARATUS AND METHOD FOR OPTICAL ANALYSIS OF AMBIENT AIR
Next Patent: APPARATUS AND METHOD FOR OPTICAL ANALYSIS OF AMBIENT AIR