Please use this identifier to cite or link to this item: https://doi.org/10.1136/jmg.2005.034157
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dc.titleAortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
dc.contributor.authorSzabo, Z.
dc.contributor.authorCrepeau, M.W.
dc.contributor.authorMitchell, A.L.
dc.contributor.authorStephan, M.J.
dc.contributor.authorPuntel, R.A.
dc.contributor.authorLoke, K.Y.
dc.contributor.authorKirk, R.C.
dc.contributor.authorUrban, Z.
dc.date.accessioned2016-11-08T09:58:49Z
dc.date.available2016-11-08T09:58:49Z
dc.date.issued2006-03
dc.identifier.citationSzabo, 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
dc.identifier.issn00222593
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/129810
dc.description.abstractBackground: 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.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1136/jmg.2005.034157
dc.sourceScopus
dc.typeArticle
dc.contributor.departmentPAEDIATRICS
dc.description.doi10.1136/jmg.2005.034157
dc.description.sourcetitleJournal of Medical Genetics
dc.description.volume43
dc.description.issue3
dc.description.page255-258
dc.description.codenJMDGA
dc.identifier.isiut000235890800012
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