Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation
Identifieur interne : 000052 ( Pmc/Curation ); précédent : 000051; suivant : 000053Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation
Auteurs : L. Faivre [France] ; G. Collod-Beroud [France] ; B. Callewaert [Belgique] ; A. Child [Royaume-Uni] ; C. Binquet [France] ; E. Gautier [France] ; B L Loeys [Belgique, États-Unis] ; E. Arbustini [Italie] ; K. Mayer [Allemagne] ; M. Arslan-Kirchner [Allemagne] ; C. Stheneur [France] ; A. Kiotsekoglou [Royaume-Uni] ; P. Comeglio [Royaume-Uni] ; N. Marziliano [Italie] ; J E Wolf [France] ; O. Bouchot [France] ; P. Khau-Van-Kien [France] ; C. Beroud [France] ; M. Claustres [France] ; C. Bonithon-Kopp [France] ; P N Robinson [Allemagne] ; L. Adès [Australie] ; J. De Backer [Belgique] ; P. Coucke [Belgique] ; U. Francke [États-Unis] ; A. De Paepe [Belgique] ; G. Jondeau [France] ; C. Boileau [France]Source :
- European Journal of Human Genetics [ 1018-4813 ] ; 2008.
Abstract
Mutations in the
Url:
DOI: 10.1038/ejhg.2008.207
PubMed: 19002209
PubMed Central: 2734964
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PMC:2734964Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic <italic>FBN1</italic>
exons 24–32 mutation</title>
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<author><name sortKey="Arbustini, E" sort="Arbustini, E" uniqKey="Arbustini E" first="E" last="Arbustini">E. Arbustini</name>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Bouchot, O" sort="Bouchot, O" uniqKey="Bouchot O" first="O" last="Bouchot">O. Bouchot</name>
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</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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</nlm:aff>
<country xml:lang="fr">France</country>
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<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Claustres, M" sort="Claustres, M" uniqKey="Claustres M" first="M" last="Claustres">M. Claustres</name>
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</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Bonithon Kopp, C" sort="Bonithon Kopp, C" uniqKey="Bonithon Kopp C" first="C" last="Bonithon-Kopp">C. Bonithon-Kopp</name>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Robinson, P N" sort="Robinson, P N" uniqKey="Robinson P" first="P N" last="Robinson">P N Robinson</name>
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</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Ades, L" sort="Ades, L" uniqKey="Ades L" first="L" last="Adès">L. Adès</name>
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</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Discipline of Paediatrics and Child Health, University of Sydney</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff19"><institution>Department of Clinical Genetics, The Children's Hospital at Westmead</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="De Backer, J" sort="De Backer, J" uniqKey="De Backer J" first="J" last="De Backer">J. De Backer</name>
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<author><name sortKey="Coucke, P" sort="Coucke, P" uniqKey="Coucke P" first="P" last="Coucke">P. Coucke</name>
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</nlm:aff>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Francke, U" sort="Francke, U" uniqKey="Francke U" first="U" last="Francke">U. Francke</name>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="De Paepe, A" sort="De Paepe, A" uniqKey="De Paepe A" first="A" last="De Paepe">A. De Paepe</name>
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<author><name sortKey="Jondeau, G" sort="Jondeau, G" uniqKey="Jondeau G" first="G" last="Jondeau">G. Jondeau</name>
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<author><name sortKey="Boileau, C" sort="Boileau, C" uniqKey="Boileau C" first="C" last="Boileau">C. Boileau</name>
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, Boulogne,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="aff23"><institution>Université Versailles Saint Quentin-en-Yvelines, UFR P.I.F.O.</institution>
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</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="aff24"><institution>INSERM, U781</institution>
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</nlm:aff>
<country xml:lang="fr">France</country>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic <italic>FBN1</italic>
exons 24–32 mutation</title>
<author><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name>
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, Dijon,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Centre d'investigation clinique – épidémiologie clinique/essais cliniques, CHU</institution>
, Dijon,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Collod Beroud, G" sort="Collod Beroud, G" uniqKey="Collod Beroud G" first="G" last="Collod-Beroud">G. Collod-Beroud</name>
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, Montpellier,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Univ Montpellier1</institution>
, Montpellier,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Callewaert, B" sort="Callewaert, B" uniqKey="Callewaert B" first="B" last="Callewaert">B. Callewaert</name>
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, Ghent,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Child, A" sort="Child, A" uniqKey="Child A" first="A" last="Child">A. Child</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Department of Cardiological Sciences, St George's Hospital</institution>
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</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C" last="Binquet">C. Binquet</name>
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</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gautier, E" sort="Gautier, E" uniqKey="Gautier E" first="E" last="Gautier">E. Gautier</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Centre d'investigation clinique – épidémiologie clinique/essais cliniques, CHU</institution>
, Dijon,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Inserm, CIE1</institution>
, Dijon,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Loeys, B L" sort="Loeys, B L" uniqKey="Loeys B" first="B L" last="Loeys">B L Loeys</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Center for Medical Genetics, Ghent University Hospital</institution>
, Ghent,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Institute of Genetic Medicine and the Howard Hughes Medical Institute, Johns Hopkins University School of Medicine</institution>
, Baltimore, MD,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Arbustini, E" sort="Arbustini, E" uniqKey="Arbustini E" first="E" last="Arbustini">E. Arbustini</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Centre for Inherited Cardiovascular Diseases, Foundation IRCCS Policlinico San Matteo</institution>
, Pavia,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mayer, K" sort="Mayer, K" uniqKey="Mayer K" first="K" last="Mayer">K. Mayer</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Center for Human Genetics and Laboratory Medicine</institution>
, Martinsried,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Arslan Kirchner, M" sort="Arslan Kirchner, M" uniqKey="Arslan Kirchner M" first="M" last="Arslan-Kirchner">M. Arslan-Kirchner</name>
<affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Institut für Humangenetik</institution>
, Hannover,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stheneur, C" sort="Stheneur, C" uniqKey="Stheneur C" first="C" last="Stheneur">C. Stheneur</name>
<affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Service de Pédiatrie, Hôpital Ambroise Paré</institution>
, Boulogne,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kiotsekoglou, A" sort="Kiotsekoglou, A" uniqKey="Kiotsekoglou A" first="A" last="Kiotsekoglou">A. Kiotsekoglou</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Department of Cardiological Sciences, St George's Hospital</institution>
, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Comeglio, P" sort="Comeglio, P" uniqKey="Comeglio P" first="P" last="Comeglio">P. Comeglio</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Department of Cardiological Sciences, St George's Hospital</institution>
, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Marziliano, N" sort="Marziliano, N" uniqKey="Marziliano N" first="N" last="Marziliano">N. Marziliano</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Centre for Inherited Cardiovascular Diseases, Foundation IRCCS Policlinico San Matteo</institution>
, Pavia,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wolf, J E" sort="Wolf, J E" uniqKey="Wolf J" first="J E" last="Wolf">J E Wolf</name>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Cardiologie, CHU</institution>
, Dijon,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bouchot, O" sort="Bouchot, O" uniqKey="Bouchot O" first="O" last="Bouchot">O. Bouchot</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Chirurgie cardio-vasculaire, CHU</institution>
, Dijon,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Khau Van Kien, P" sort="Khau Van Kien, P" uniqKey="Khau Van Kien P" first="P" last="Khau-Van-Kien">P. Khau-Van-Kien</name>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>CHU Montpellier, Hôpital Arnault de Villeneuve, Laboratoire de Génétique Moléculaire</institution>
, Montpellier,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Beroud, C" sort="Beroud, C" uniqKey="Beroud C" first="C" last="Beroud">C. Beroud</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>INSERM, U827</institution>
, Montpellier,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Univ Montpellier1</institution>
, Montpellier,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>CHU Montpellier, Hôpital Arnault de Villeneuve, Laboratoire de Génétique Moléculaire</institution>
, Montpellier,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Claustres, M" sort="Claustres, M" uniqKey="Claustres M" first="M" last="Claustres">M. Claustres</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>INSERM, U827</institution>
, Montpellier,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Univ Montpellier1</institution>
, Montpellier,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>CHU Montpellier, Hôpital Arnault de Villeneuve, Laboratoire de Génétique Moléculaire</institution>
, Montpellier,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bonithon Kopp, C" sort="Bonithon Kopp, C" uniqKey="Bonithon Kopp C" first="C" last="Bonithon-Kopp">C. Bonithon-Kopp</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Centre d'investigation clinique – épidémiologie clinique/essais cliniques, CHU</institution>
, Dijon,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Inserm, CIE1</institution>
, Dijon,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Robinson, P N" sort="Robinson, P N" uniqKey="Robinson P" first="P N" last="Robinson">P N Robinson</name>
<affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Institut für Medizinische Genetik, Universitätsmedizin Charité</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ades, L" sort="Ades, L" uniqKey="Ades L" first="L" last="Adès">L. Adès</name>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Marfan Research Group, The Children's Hospital at Westmead</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Discipline of Paediatrics and Child Health, University of Sydney</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff19"><institution>Department of Clinical Genetics, The Children's Hospital at Westmead</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="De Backer, J" sort="De Backer, J" uniqKey="De Backer J" first="J" last="De Backer">J. De Backer</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Center for Medical Genetics, Ghent University Hospital</institution>
, Ghent,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Coucke, P" sort="Coucke, P" uniqKey="Coucke P" first="P" last="Coucke">P. Coucke</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Center for Medical Genetics, Ghent University Hospital</institution>
, Ghent,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Francke, U" sort="Francke, U" uniqKey="Francke U" first="U" last="Francke">U. Francke</name>
<affiliation wicri:level="1"><nlm:aff id="aff20"><institution>Departments of Genetics and Pediatrics, Stanford University Medical Center</institution>
, Palo Alto, CA,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="De Paepe, A" sort="De Paepe, A" uniqKey="De Paepe A" first="A" last="De Paepe">A. De Paepe</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Center for Medical Genetics, Ghent University Hospital</institution>
, Ghent,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Jondeau, G" sort="Jondeau, G" uniqKey="Jondeau G" first="G" last="Jondeau">G. Jondeau</name>
<affiliation wicri:level="1"><nlm:aff id="aff21"><institution>AP-HP, Hôpital Bichat, Centre de reference national pour le syndrome de Marfan et apparentés</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Boileau, C" sort="Boileau, C" uniqKey="Boileau C" first="C" last="Boileau">C. Boileau</name>
<affiliation wicri:level="1"><nlm:aff id="aff22"><institution>AP-HP, Hôpital Ambroise Paré, Laboratoire de Génétique moléculaire</institution>
, Boulogne,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff23"><institution>Université Versailles Saint Quentin-en-Yvelines, UFR P.I.F.O.</institution>
, Garches,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff24"><institution>INSERM, U781</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">European Journal of Human Genetics</title>
<idno type="ISSN">1018-4813</idno>
<idno type="eISSN">1476-5438</idno>
<imprint><date when="2008">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Mutations in the <italic>FBN1</italic>
gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands carrying a mutation within exons 24–32. We previously showed that a mutation in exons 24–32 is predictive of a severe cardiovascular phenotype even in non-neonatal cases, and that mutations leading to premature truncation codons are under-represented in this region. To describe patients carrying a mutation in this so-called ‘neonatal' region, we studied the clinical and molecular characteristics of 198 probands with a mutation in exons 24–32 from a series of 1013 probands with a <italic>FBN1</italic>
mutation (20%). When comparing patients with mutations leading to a premature termination codon (PTC) within exons 24–32 to patients with an in-frame mutation within the same region, a significantly higher probability of developing ectopia lentis and mitral insufficiency were found in the second group. Patients with a PTC within exons 24–32 rarely displayed a neonatal or severe MFS presentation. We also found a higher probability of neonatal presentations associated with exon 25 mutations, as well as a higher probability of cardiovascular manifestations. A high phenotypic heterogeneity could be described for recurrent mutations, ranging from neonatal to classical MFS phenotype. In conclusion, even if the exons 24–32 location appears as a major cause of the severity of the phenotype in patients with a mutation in this region, other factors such as the type of mutation or modifier genes might also be relevant.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id>
<journal-title-group><journal-title>European Journal of Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">1018-4813</issn>
<issn pub-type="epub">1476-5438</issn>
<publisher><publisher-name>Nature Publishing Group</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">19002209</article-id>
<article-id pub-id-type="pmc">2734964</article-id>
<article-id pub-id-type="pii">ejhg2008207</article-id>
<article-id pub-id-type="doi">10.1038/ejhg.2008.207</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic <italic>FBN1</italic>
exons 24–32 mutation</article-title>
<alt-title alt-title-type="running"><italic>FBN1</italic>
gene and the exons 24–32 region</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Faivre</surname>
<given-names>L</given-names>
</name>
<xref ref-type="corresp" rid="caf1">*</xref>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="corresp" rid="caf1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Collod-Beroud</surname>
<given-names>G</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Callewaert</surname>
<given-names>B</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Child</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Binquet</surname>
<given-names>C</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gautier</surname>
<given-names>E</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Loeys</surname>
<given-names>B L</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
<xref ref-type="aff" rid="aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Arbustini</surname>
<given-names>E</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mayer</surname>
<given-names>K</given-names>
</name>
<xref ref-type="aff" rid="aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Arslan-Kirchner</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="aff11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stheneur</surname>
<given-names>C</given-names>
</name>
<xref ref-type="aff" rid="aff12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kiotsekoglou</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Comeglio</surname>
<given-names>P</given-names>
</name>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Marziliano</surname>
<given-names>N</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wolf</surname>
<given-names>J E</given-names>
</name>
<xref ref-type="aff" rid="aff13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bouchot</surname>
<given-names>O</given-names>
</name>
<xref ref-type="aff" rid="aff14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Khau-Van-Kien</surname>
<given-names>P</given-names>
</name>
<xref ref-type="aff" rid="aff15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Beroud</surname>
<given-names>C</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
<xref ref-type="aff" rid="aff4">4</xref>
<xref ref-type="aff" rid="aff15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Claustres</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
<xref ref-type="aff" rid="aff4">4</xref>
<xref ref-type="aff" rid="aff15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bonithon-Kopp</surname>
<given-names>C</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Robinson</surname>
<given-names>P N</given-names>
</name>
<xref ref-type="aff" rid="aff16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Adès</surname>
<given-names>L</given-names>
</name>
<xref ref-type="aff" rid="aff17">17</xref>
<xref ref-type="aff" rid="aff18">18</xref>
<xref ref-type="aff" rid="aff19">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>De Backer</surname>
<given-names>J</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Coucke</surname>
<given-names>P</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Francke</surname>
<given-names>U</given-names>
</name>
<xref ref-type="aff" rid="aff20">20</xref>
</contrib>
<contrib contrib-type="author"><name><surname>De Paepe</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jondeau</surname>
<given-names>G</given-names>
</name>
<xref ref-type="aff" rid="aff21">21</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Boileau</surname>
<given-names>C</given-names>
</name>
<xref ref-type="aff" rid="aff22">22</xref>
<xref ref-type="aff" rid="aff23">23</xref>
<xref ref-type="aff" rid="aff24">24</xref>
</contrib>
<aff id="aff1"><label>1</label>
<institution>Centre de Génétique, CHU</institution>
, Dijon,<country>France</country>
</aff>
<aff id="aff2"><label>2</label>
<institution>Centre d'investigation clinique – épidémiologie clinique/essais cliniques, CHU</institution>
, Dijon,<country>France</country>
</aff>
<aff id="aff3"><label>3</label>
<institution>INSERM, U827</institution>
, Montpellier,<country>France</country>
</aff>
<aff id="aff4"><label>4</label>
<institution>Univ Montpellier1</institution>
, Montpellier,<country>France</country>
</aff>
<aff id="aff5"><label>5</label>
<institution>Center for Medical Genetics, Ghent University Hospital</institution>
, Ghent,<country>Belgium</country>
</aff>
<aff id="aff6"><label>6</label>
<institution>Department of Cardiological Sciences, St George's Hospital</institution>
, London,<country>UK</country>
</aff>
<aff id="aff7"><label>7</label>
<institution>Inserm, CIE1</institution>
, Dijon,<country>France</country>
</aff>
<aff id="aff8"><label>8</label>
<institution>Institute of Genetic Medicine and the Howard Hughes Medical Institute, Johns Hopkins University School of Medicine</institution>
, Baltimore, MD,<country>USA</country>
</aff>
<aff id="aff9"><label>9</label>
<institution>Centre for Inherited Cardiovascular Diseases, Foundation IRCCS Policlinico San Matteo</institution>
, Pavia,<country>Italy</country>
</aff>
<aff id="aff10"><label>10</label>
<institution>Center for Human Genetics and Laboratory Medicine</institution>
, Martinsried,<country>Germany</country>
</aff>
<aff id="aff11"><label>11</label>
<institution>Institut für Humangenetik</institution>
, Hannover,<country>Germany</country>
</aff>
<aff id="aff12"><label>12</label>
<institution>Service de Pédiatrie, Hôpital Ambroise Paré</institution>
, Boulogne,<country>France</country>
</aff>
<aff id="aff13"><label>13</label>
<institution>Cardiologie, CHU</institution>
, Dijon,<country>France</country>
</aff>
<aff id="aff14"><label>14</label>
<institution>Chirurgie cardio-vasculaire, CHU</institution>
, Dijon,<country>France</country>
</aff>
<aff id="aff15"><label>15</label>
<institution>CHU Montpellier, Hôpital Arnault de Villeneuve, Laboratoire de Génétique Moléculaire</institution>
, Montpellier,<country>France</country>
</aff>
<aff id="aff16"><label>16</label>
<institution>Institut für Medizinische Genetik, Universitätsmedizin Charité</institution>
, Berlin,<country>Germany</country>
</aff>
<aff id="aff17"><label>17</label>
<institution>Marfan Research Group, The Children's Hospital at Westmead</institution>
, Sydney,<country>Australia</country>
</aff>
<aff id="aff18"><label>18</label>
<institution>Discipline of Paediatrics and Child Health, University of Sydney</institution>
, Sydney,<country>Australia</country>
</aff>
<aff id="aff19"><label>19</label>
<institution>Department of Clinical Genetics, The Children's Hospital at Westmead</institution>
, Sydney,<country>Australia</country>
</aff>
<aff id="aff20"><label>20</label>
<institution>Departments of Genetics and Pediatrics, Stanford University Medical Center</institution>
, Palo Alto, CA,<country>USA</country>
</aff>
<aff id="aff21"><label>21</label>
<institution>AP-HP, Hôpital Bichat, Centre de reference national pour le syndrome de Marfan et apparentés</institution>
, Paris,<country>France</country>
</aff>
<aff id="aff22"><label>22</label>
<institution>AP-HP, Hôpital Ambroise Paré, Laboratoire de Génétique moléculaire</institution>
, Boulogne,<country>France</country>
</aff>
<aff id="aff23"><label>23</label>
<institution>Université Versailles Saint Quentin-en-Yvelines, UFR P.I.F.O.</institution>
, Garches,<country>France</country>
</aff>
<aff id="aff24"><label>24</label>
<institution>INSERM, U781</institution>
, Paris,<country>France</country>
</aff>
</contrib-group>
<author-notes><corresp id="caf1"><label>*</label>
<institution>Centre de Génétique, Hôpital d'Enfants</institution>
, 10, bd Maréchal DeLattre de Tassigny, Dijon 21034, <country>France</country>
. Tel: +33 380 293 300; Fax: +33 380 293 266; E-mail: <email>laurence.faivre@chu-dijon.fr</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>04</month>
<year>2009</year>
</pub-date>
<pub-date pub-type="epub"><day>12</day>
<month>11</month>
<year>2008</year>
</pub-date>
<volume>17</volume>
<issue>4</issue>
<fpage>491</fpage>
<lpage>501</lpage>
<history><date date-type="received"><day>26</day>
<month>03</month>
<year>2008</year>
</date>
<date date-type="rev-recd"><day>06</day>
<month>10</month>
<year>2008</year>
</date>
<date date-type="accepted"><day>07</day>
<month>10</month>
<year>2008</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2009 Macmillan Publishers Limited</copyright-statement>
<copyright-year>2009</copyright-year>
<copyright-holder>Macmillan Publishers Limited</copyright-holder>
</permissions>
<abstract><p>Mutations in the <italic>FBN1</italic>
gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands carrying a mutation within exons 24–32. We previously showed that a mutation in exons 24–32 is predictive of a severe cardiovascular phenotype even in non-neonatal cases, and that mutations leading to premature truncation codons are under-represented in this region. To describe patients carrying a mutation in this so-called ‘neonatal' region, we studied the clinical and molecular characteristics of 198 probands with a mutation in exons 24–32 from a series of 1013 probands with a <italic>FBN1</italic>
mutation (20%). When comparing patients with mutations leading to a premature termination codon (PTC) within exons 24–32 to patients with an in-frame mutation within the same region, a significantly higher probability of developing ectopia lentis and mitral insufficiency were found in the second group. Patients with a PTC within exons 24–32 rarely displayed a neonatal or severe MFS presentation. We also found a higher probability of neonatal presentations associated with exon 25 mutations, as well as a higher probability of cardiovascular manifestations. A high phenotypic heterogeneity could be described for recurrent mutations, ranging from neonatal to classical MFS phenotype. In conclusion, even if the exons 24–32 location appears as a major cause of the severity of the phenotype in patients with a mutation in this region, other factors such as the type of mutation or modifier genes might also be relevant.</p>
</abstract>
<kwd-group><kwd>Neonatal Marfan syndrome</kwd>
<kwd><italic>FBN1</italic>
mutations</kwd>
<kwd>exons 24–32</kwd>
<kwd>clinical and mutation-type analysis</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>
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