Molecular genetics of Williams syndrome

Update item information
Publication Type dissertation
School or College School of Medicine
Department Human Genetics
Author Toland, Amanda Ewart
Contributor Morris, Colleen; Mervis, Carolyn
Title Molecular genetics of Williams syndrome
Date 1996-06
Description Williams syndrome (WS) is a developmental disorder characterized by cardiovascular disease, connective tissue abnormalities, unique personality, specific cognitive profile, mental retardation, and infantile hypercalcemia. Over the past five years, our laboratory discovered that submicroscopic deletions of chromosome 7q11.23 cause WS and demonstrated the hemizygosity of two genes, elastin (ELN) and LIM-kinase (LILMK), is important for the WS phenotype. My contribution to these discoveries includes the following: mapping the locus for autosomal dominant supravalvular aortic stenosis (SVAS) to chromosome 7q11.23; identifying linkage between SVAS and ELN in two kindreds; demonstrating by Southern analyses that an SVAS-associated translocation disrupts ELN in a third kindred; identifying a ~90 kb SVAS-associated deletion in the 3' end of ELN in another kindred; demonstrating by dosage and genotype analyses that WS is caused by a submicroscopic deletion of chromosome 7q11.23 including one ELN allele; completing the characterization of the genomic structure of ELN for addition mutational analysis; and contributing to the finding that deletions of a second gene, LIMK are associated with specific cognitive profile of WS. These results provide the first molecular insight into the development of human cognitive function and the pathophysiology of ELN in vascular disease. Furthermore, these studies will facilitate future work deciphering the molecular basis of WS.
Type Text
Publisher University of Utah
Subject Mental Disabilities
Subject MESH Genetics; Williams Syndrome
Dissertation Institution University of Utah
Dissertation Name PhD
Language eng
Relation is Version of Digital reproduction of "Molecular genetics of Williams syndrome". Spencer S. Eccles Health Sciences Library. Print version of "Molecular genetics of Williams syndrome" available at J. Willard Marriott Library Special Collection. RJ25.5 1996 .T64.
Rights Management © Amanda Ewart Toland.
Format Medium application/pdf
Format Extent 3,773,209 bytes
Identifier undthes,4053
Source Original: University of Utah Spencer S. Eccles Health Sciences Library (no longer available)
Funding/Fellowship American Heart Associaton; Primary Children's Hospital; The National Institues of Health; University of Utah
Master File Extent 3,773,237 bytes
ARK ark:/87278/s6th8pk2
Setname ir_etd
Date Created 2012-04-24
Date Modified 2021-05-06
ID 191777
Reference URL
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