Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation
Identifieur interne : 008620 ( Main/Curation ); précédent : 008619; suivant : 008621Clinical 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
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exons 24–32 mutation</title>
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<author><name sortKey="Arslan Kirchner, M" sort="Arslan Kirchner, M" uniqKey="Arslan Kirchner M" first="M" last="Arslan-Kirchner">M. Arslan-Kirchner</name>
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</nlm:aff>
<country xml:lang="fr">France</country>
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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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<author><name sortKey="Ades, L" sort="Ades, L" uniqKey="Ades L" first="L" last="Adès">L. Adès</name>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Discipline of Paediatrics and Child Health, University of Sydney</institution>
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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="aff19"><institution>Department of Clinical Genetics, The Children's Hospital at Westmead</institution>
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</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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<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>
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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>
</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>
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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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<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>
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</nlm:aff>
<country xml:lang="fr">France</country>
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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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<author><name sortKey="Callewaert, B" sort="Callewaert, B" uniqKey="Callewaert B" first="B" last="Callewaert">B. Callewaert</name>
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<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<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>
, 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="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C" last="Binquet">C. Binquet</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="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>
</record>
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