Please use this identifier to cite or link to this item: https://doi.org/10.1136/jmg.2005.034157
Title: Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
Authors: Szabo, Z.
Crepeau, M.W.
Mitchell, A.L.
Stephan, M.J.
Puntel, R.A.
Loke, K.Y. 
Kirk, R.C.
Urban, Z.
Issue Date: Mar-2006
Citation: Szabo, Z., Crepeau, M.W., Mitchell, A.L., Stephan, M.J., Puntel, R.A., Loke, K.Y., Kirk, R.C., Urban, Z. (2006-03). Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. Journal of Medical Genetics 43 (3) : 255-258. ScholarBank@NUS Repository. https://doi.org/10.1136/jmg.2005.034157
Abstract: Background: Cutis laxa is an acquired or inherited condition characterized by redundant, pendulous and inelastic skin. Autosomal dominant cutis laxa has been described as a benign disease with minor systemic involvement. Objective: To report a family with autosomal dominant cutis laxa and a young girl with sporadic cutis laxa, both with variable expression of an aortic aneurysmal phenotype ranging from mild dilatation to severe aneurysm or aortic rupture. Methods and results: Histological evaluation of aortic aneurysmal specimens indicated classical hallmarks of medial degeneration, paucity of elastic fibres, and an absence of inflammatory or atherosclerotic lesions. Electron microscopy showed extracellular elastin deposits lacking microfibrillar elements. Direct sequencing of genomic amplimers detected defects in exon 30 of the elastin gene in affected individuals, but did not in 121 normal controls. The expression of mutant elastin mRNA forms was demonstrated by reverse transcriptase polymerase chain reaction analysis of cutis laxa fibroblasts. These mRNAs coded for multiple mutant tropoelastins, including C-terminally truncated and extended forms as well as for molecules lacking the constitutive exon 30. Conclusions: ELN mutations may cause severe aortic disease in patients with cutis laxa. Thus regular cardiac monitoring is necessary in this disease to avert fatal aortic rupture.
Source Title: Journal of Medical Genetics
URI: http://scholarbank.nus.edu.sg/handle/10635/129810
ISSN: 00222593
DOI: 10.1136/jmg.2005.034157
Appears in Collections:Staff Publications

Show full item record
Files in This Item:
There are no files associated with this item.

SCOPUSTM   
Citations

71
checked on Aug 16, 2018

WEB OF SCIENCETM
Citations

62
checked on Jul 24, 2018

Page view(s)

13
checked on Jun 7, 2018

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.