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BioMed Central, Orphanet Journal of Rare Diseases, 1(8), p. 36

DOI: 10.1186/1750-1172-8-36

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Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Journal article published in 2013 by Smail Hadj-Rabia, Bert L. Callewaert ORCID, Emmanuelle Bourrat, Marlies Kempers, Astrid S. Plomp, Valerie Layet, Deborah Bartholdi, Julie De Backer, Marjolijn Renard, Julie De Backer, Fransiska Malfait, Olivier M. Vanakker, Paul J. Coucke, Anne M. De Paepe, Christine Bodemer
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

BACKGROUND: Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary emphysema. In most patients, frameshift mutations are found in the 3' region of the elastin gene (exons 30-34) which result in a C-terminally extended protein, though exceptions have been reported. METHODS: We clinically and molecularly characterized the thus far largest cohort of ADCL patients, consisting of 19 patients from six families and one sporadic patient. RESULTS: Molecular analysis showed C-terminal frameshift mutations in exon 30, 32, and 34 of the elastin gene and identified a mutational hotspot in exon 32 (c.2262delA). This cohort confirms the previously reported clinical constellation of skin laxity (100%), inguinal hernias (51%), aortic root dilatation (55%) and emphysema (37%). CONCLUSION: ADCL is a clinically and molecularly homogeneous disorder, but intra- and interfamilial variability in the severity of organ involvement needs to be taken into account. Regular cardiovascular and pulmonary evaluations are imperative in the clinical follow-up of these patients.