Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
Identifieur interne : 000452 ( Main/Curation ); précédent : 000451; suivant : 000453Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
Auteurs : Smail Hadj-Rabia [France] ; Bert L. Callewaert [Belgique] ; Emmanuelle Bourrat [France] ; Marlies Kempers [Pays-Bas] ; Astrid S. Plomp [Pays-Bas] ; Valerie Layet [France] ; Deborah Bartholdi [Suisse] ; Marjolijn Renard [Belgique] ; Julie De Backer [Belgique] ; Fransiska Malfait [Belgique] ; Olivier M. Vanakker [Belgique] ; Paul J. Coucke [Belgique] ; Anne M. De Paepe [Belgique] ; Christine Bodemer [France]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2013.
English descriptors
- mix :
Abstract
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.
We clinically and molecularly characterized the thus far largest cohort of ADCL patients, consisting of 19 patients from six families and one sporadic patient.
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%).
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.
Url:
DOI: 10.1186/1750-1172-8-36
PubMed: 23442826
PubMed Central: 3599008
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PMC:3599008Le document en format XML
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<author><name sortKey="Bourrat, Emmanuelle" sort="Bourrat, Emmanuelle" uniqKey="Bourrat E" first="Emmanuelle" last="Bourrat">Emmanuelle Bourrat</name>
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<author><name sortKey="Kempers, Marlies" sort="Kempers, Marlies" uniqKey="Kempers M" first="Marlies" last="Kempers">Marlies Kempers</name>
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<author><name sortKey="Plomp, Astrid S" sort="Plomp, Astrid S" uniqKey="Plomp A" first="Astrid S" last="Plomp">Astrid S. Plomp</name>
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<author><name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valerie" last="Layet">Valerie Layet</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Bartholdi, Deborah" sort="Bartholdi, Deborah" uniqKey="Bartholdi D" first="Deborah" last="Bartholdi">Deborah Bartholdi</name>
<affiliation wicri:level="4"><nlm:aff id="I7">Institute of Medical Genetics, University of Zürich, Zürich, Switzerland</nlm:aff>
<country xml:lang="fr">Suisse</country>
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<orgName type="university">Université de Zurich</orgName>
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<author><name sortKey="Renard, Marjolijn" sort="Renard, Marjolijn" uniqKey="Renard M" first="Marjolijn" last="Renard">Marjolijn Renard</name>
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<author><name sortKey="Backer, Julie De" sort="Backer, Julie De" uniqKey="Backer J" first="Julie De" last="Backer">Julie De Backer</name>
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<country xml:lang="fr">Belgique</country>
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<author><name sortKey="Malfait, Fransiska" sort="Malfait, Fransiska" uniqKey="Malfait F" first="Fransiska" last="Malfait">Fransiska Malfait</name>
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<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
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<author><name sortKey="Vanakker, Olivier M" sort="Vanakker, Olivier M" uniqKey="Vanakker O" first="Olivier M" last="Vanakker">Olivier M. Vanakker</name>
<affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Coucke, Paul J" sort="Coucke, Paul J" uniqKey="Coucke P" first="Paul J" last="Coucke">Paul J. Coucke</name>
<affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
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<author><name sortKey="De Paepe, Anne M" sort="De Paepe, Anne M" uniqKey="De Paepe A" first="Anne M" last="De Paepe">Anne M. De Paepe</name>
<affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Service de Dermatologie – Centre de référence national des Maladies Génétiques à Expression Cutanée (MAGEC), INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Dermatologie – Centre de référence national des Maladies Génétiques à Expression Cutanée (MAGEC), INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
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<series><title level="j">Orphanet Journal of Rare Diseases</title>
<idno type="eISSN">1750-1172</idno>
<imprint><date when="2013">2013</date>
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<profileDesc><textClass><keywords scheme="mix" xml:lang="en"><term>Autosomal dominant cutis laxa</term>
<term>ELN</term>
<term>Elastin</term>
<term>Genotype</term>
<term>Phenotype</term>
</keywords>
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<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>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.</p>
</sec>
<sec><title>Methods</title>
<p>We clinically and molecularly characterized the thus far largest cohort of ADCL patients, consisting of 19 patients from six families and one sporadic patient.</p>
</sec>
<sec><title>Results</title>
<p>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%).</p>
</sec>
<sec><title>Conclusion</title>
<p>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.</p>
</sec>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Ewart, Ak" uniqKey="Ewart A">AK Ewart</name>
</author>
<author><name sortKey="Morris, Ca" uniqKey="Morris C">CA Morris</name>
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<author><name sortKey="De Paepe, A" uniqKey="De Paepe A">A De Paepe</name>
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