Colleen Y Morris

US Patent:

58586628, Jan 12, 1999

Filed:

Jul 10, 1996

Appl. No.:

8/678039

Inventors:

Mark T. Keating - Salt Lake City UT
Colleen A. Morris - Las Vegas NV

Assignee:

University of Utah Research Foundation - Salt Lake City UT
University and College System of Nevada - Reno NV

International Classification:

C12Q 168
C12P 1934
C12N 1500

US Classification:

435 6

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.

US Patent:

56502826, Jul 22, 1997

Filed:

Jun 7, 1995

Appl. No.:

8/474021

Inventors:

Mark T. Keating - Salt Lake City UT
Mark F. Leppert - Salt Lake City UT
Colleen A. Morris - Las Vegas NV

Assignee:

The University of Utah Research Foundation - Salt Lake City UT

International Classification:

C12Q 168
C12P 1934
C07H 2104
C12N 1500

US Classification:

435 6

Abstract:

The invention relates to the identification of the molecular basis of supravalvular aortic stenosis (SVAS) and Williams syndrome. More specifically, the invention has identified that elastin causes or is involved in the pathogenesis of SVAS and Williams syndrome. Molecular variants of the elastin gene contribute to SVAS and Williams syndrome. The analysis of the elastin gene will provide an early diagnosis of subjects with SVAS and Williams syndrome. The diagnostic method comprises analyzing the DNA sequence of the elastin gene of an individual to be tested and comparing it with the DNA sequence of the native, non-variant elastin gene. In a second embodiment, the elastin gene of an individual to be tested is screened for mutations associated with SVAS or Williams syndrome. Presymptomatic diagnosis of SVAS and Williams syndrome will enable practitioners to prevent vascular obstruction using existing medical therapies like beta adrenergic blocking agents.

US Patent:

58404899, Nov 24, 1998

Filed:

Jun 7, 1995

Appl. No.:

8/474020

Inventors:

Mark T. Keating - Salt Lake City UT
Mark F. Leppert - Salt Lake City UT
Colleen A. Morris - Las Vegas NV

Assignee:

University of Utah Research Foundation - Salt Lake City UT

International Classification:

C12Q 168
C12P 1934
C07H 2102
C12N 1500

US Classification:

435 6

Abstract:

The invention relates to the identification of the molecular basis of supravalvular aortic stenosis (SVAS) and Williams syndrome. More specifically, the invention has identified that elastin causes or is involved in the pathogenesis of SVAS and Williams syndrome. Molecular variants of the elastin gene contribute to SVAS and Williams syndrome. The analysis of the elastin gene will provide an early diagnosis of subjects with SVAS and Williams syndrome. The diagnostic method comprises analyzing the DNA sequence of the elastin gene of an individual to be tested and comparing it with the DNA sequence of the native, non-variant elastin gene. In a second embodiment, the elastin gene of an individual to be tested is screened for mutations associated with SVAS or Williams syndrome. Presymptomatic diagnosis of SVAS and Williams syndrome will enable practitioners to prevent vascular obstruction using existing medical therapies like beta adrenergic blocking agents.