COLLEEN ANNETTE MORRIS, M.D
Medical Practice at Maryland Pkwy, Las Vegas, NV

5858662, Jan 12, 1999

Jul 10, 1996

8/678039

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

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

C12Q 168, C12P 1934, C12N 1500

435 6

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.

5650282, Jul 22, 1997

Jun 7, 1995

8/474021

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

The University of Utah Research Foundation - Salt Lake City UT

C12Q 168, C12P 1934, C07H 2104, C12N 1500

435 6

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.

5840489, Nov 24, 1998

Jun 7, 1995

8/474020

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

University of Utah Research Foundation - Salt Lake City UT

C12Q 168, C12P 1934, C07H 2102, C12N 1500

435 6

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.