LeHavreV1, Hal, Checkpoint, bibRecord, 000242

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

Identifieur interne : 000242 ( Hal/Checkpoint ); précédent : 000241; suivant : 000243

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

Auteurs : Smail Hadj-Rabia [France] ; Bert Callewaert [Belgique] ; Emmanuelle Bourrat [France] ; Marlies Kempers [Pays-Bas] ; Astrid Plomp [Pays-Bas] ; Valerie Layet [France] ; Deborah Bartholdi [Suisse] ; Marjolijn Renard [Belgique] ; Julie De Backer [Belgique] ; Fransiska Malfait [Belgique] ; Olivier Vanakker [Belgique] ; Paul Coucke [Belgique] ; Anne De Paepe [Belgique] ; Christine Bodemer [France]

Source :

Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2013-02-25.

RBID : Hal:inserm-00798332

English descriptors

mix :
- Autosomal dominant cutis laxa, ELN, Elastin, Genotype, Phenotype.

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.

Url:

http://www.hal.inserm.fr/inserm-00798332

DOI: 10.1186/1750-1172-8-36

Links toward previous steps (curation, corpus...)

to stream Hal, to step Corpus: 000359
to stream Hal, to step Curation: 000359

Links to Exploration step

Hal:inserm-00798332

Le document en format XML

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<front><div type="abstract" xml:lang="en">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.</div>
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<hal api="V3"><titleStmt><title xml:lang="en">Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.</title>
<author role="crp"><persName><forename type="first">Smail</forename>
<surname>Hadj-Rabia</surname>
</persName>
<email>smail.hadj@inserm.fr</email>
<idno type="halauthor">825384</idno>
<affiliation ref="#struct-2827"></affiliation>
<affiliation ref="#struct-44765"></affiliation>
<affiliation ref="#struct-217120"></affiliation>
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<author role="crp"><persName><forename type="first">Bert</forename>
<surname>Callewaert</surname>
</persName>
<email>Bert.Callewaert@Ugent.be</email>
<idno type="halauthor">825385</idno>
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</author>
<author role="aut"><persName><forename type="first">Emmanuelle</forename>
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<email>Emmanuelle.bourrat@sls.ap-hop-paris.fr</email>
<idno type="halauthor">825386</idno>
<affiliation ref="#struct-217120"></affiliation>
<affiliation ref="#struct-135688"></affiliation>
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<author role="aut"><persName><forename type="first">Marlies</forename>
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<email>M.Kempers@gen.umcn.nl</email>
<idno type="halauthor">825387</idno>
<affiliation ref="#struct-305057"></affiliation>
</author>
<author role="aut"><persName><forename type="first">Astrid</forename>
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<email>a.s.plomp@amc.uva.nl</email>
<idno type="halauthor">825388</idno>
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<author role="aut"><persName><forename type="first">Valerie</forename>
<surname>Layet</surname>
</persName>
<email>vlayet@ch-havre.fr</email>
<idno type="halauthor">825389</idno>
<affiliation ref="#struct-216594"></affiliation>
</author>
<author role="aut"><persName><forename type="first">Deborah</forename>
<surname>Bartholdi</surname>
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<email>debobarth@yahoo.com</email>
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<author role="aut"><persName><forename type="first">Marjolijn</forename>
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<author role="aut"><persName><forename type="first">Fransiska</forename>
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<author role="aut"><persName><forename type="first">Olivier</forename>
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<idno type="halauthor">631270</idno>
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<author role="aut"><persName><forename type="first">Anne</forename>
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<surname>BMC</surname>
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</editor>
<funder>This work was supported by a Methusalem grant to ADP (BOF 08/01M01108 from the Ghent University and Flemish Government) providing funding to perform the molecular analysis. JDB is a senior clinical investigator and BC and FM are postdoctoral research fellows of the Fund for Scientific Research - Flanders. OV has a BOF research fellowship from the Ghent University. We are indebted to the families involved in this study as well as to REEL ( Réseau élastique), a French collaboration network on inherited diseases of the elastic fibers, that supports research by providing logistic support in patient assembly, evaluation and sample gathering and that supports patients in daily life.</funder>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.</title>
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<author role="crp"><persName><forename type="first">Bert</forename>
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<author role="aut"><persName><forename type="first">Julie De</forename>
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<author role="aut"><persName><forename type="first">Olivier</forename>
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<idno type="halAuthorId">825393</idno>
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<author role="aut"><persName><forename type="first">Paul</forename>
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<author role="aut"><persName><forename type="first">Anne</forename>
<surname>De Paepe</surname>
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<idno type="halAuthorId">560025</idno>
<affiliation ref="#struct-128123"></affiliation>
</author>
<author role="aut"><persName><forename type="first">Christine</forename>
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<email>christine.bodemer@nck.aphp.fr</email>
<idno type="halAuthorId">616041</idno>
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<idno type="issn">1750-1172</idno>
<title level="j">Orphanet Journal of Rare Diseases</title>
<imprint><publisher>BioMed Central</publisher>
<biblScope unit="volume">8</biblScope>
<biblScope unit="issue">1</biblScope>
<biblScope unit="pp">36</biblScope>
<date type="datePub">2013-02-25</date>
<date type="dateEpub">2013-02-25</date>
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<idno type="doi">10.1186/1750-1172-8-36</idno>
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<textClass><keywords scheme="author"><term xml:lang="en">Elastin</term>
<term xml:lang="en">ELN</term>
<term xml:lang="en">Autosomal dominant cutis laxa</term>
<term xml:lang="en">Genotype</term>
<term xml:lang="en">Phenotype</term>
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<classCode scheme="halDomain" n="sdv.gen">Life Sciences [q-bio]/Genetics</classCode>
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<abstract xml:lang="en">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.</abstract>
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   |texte=   Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
}}

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

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

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