Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. - Archive ouverte HAL Access content directly
Journal Articles Orphanet Journal of Rare Diseases Year : 2013

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

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Valerie Layet
  • Function : Author
  • PersonId : 937819
Deborah Bartholdi
  • Function : Author
  • PersonId : 937820
Marjolijn Renard
  • Function : Author
  • PersonId : 937821
Julie De Backer
  • Function : Author
  • PersonId : 937822
Fransiska Malfait
  • Function : Author
  • PersonId : 902698
Olivier Vanakker
  • Function : Author
  • PersonId : 937823
Paul Coucke
  • Function : Author
  • PersonId : 906902
Anne de Paepe
  • Function : Author
  • PersonId : 885521

Abstract

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.
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Dates and versions

inserm-00798332 , version 1 (08-03-2013)

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Smail Hadj-Rabia, Bert Callewaert, Emmanuelle Bourrat, Marlies Kempers, Astrid Plomp, et al.. Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.. Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.36. ⟨10.1186/1750-1172-8-36⟩. ⟨inserm-00798332⟩
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