Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome : Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion
Identifieur interne : 003182 ( PascalFrancis/Curation ); précédent : 003181; suivant : 003183Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome : Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion
Auteurs : L. Faivre [France] ; G. Collod-Beroud [France] ; B. Callewaert [Belgique] ; A. Child [Royaume-Uni] ; B. L. Loeys [Belgique, États-Unis] ; C. Binquet [France] ; E. Gautier [France] ; E. Arbustini [Italie] ; K. Mayer [Allemagne] ; M. Arslan-Kirchner [Allemagne] ; A. Kiotsekoglou [États-Unis] ; P. Comeglio [États-Unis] ; M. Grasso [Italie] ; C. Beroud [France] ; C. Bonithon-Kopp [France] ; M. Claustres [France] ; C. Stheneur [France] ; O. Bouchot [France] ; J. E. Wolf [France] ; P. N. Robinson [Allemagne] ; L. Ades [Australie] ; J. De Backer [Belgique] ; P. Coucke [Belgique] ; U. Francke [États-Unis] ; A. De Paepe [Belgique] ; C. Boileau [France] ; G. Jondeau [France]Source :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2009.
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Abstract
Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes. A proportion of patients carrying a FBN1 mutation does not meet diagnostic criteria for MFS, and are diagnosed with "other type I fibrillinopathy." In order to better describe this entity, we analyzed a subgroup of 146 out of 689 adult propositi with incomplete "clinical" international criteria (Ghent nosology) from a large collaborative international study including 1,009 propositi with a pathogenic FBN1 mutation. We focused on patients with only one major clinical criterion, [including isolated ectopia lentis (EL; 12 patients), isolated ascending aortic dilatation (17 patients), and isolated major skeletal manifestations (1 patient)] or with no major criterion but only minor criteria in 1 or more organ systems (16 patients). At least one component of the Ghent nosology, insufficient alone to make a minor criterion, was found in the majority of patients with isolated ascending aortic dilatation and isolated EL. In patients with isolated EL, missense mutations involving a cysteine were predominant, mutations in exons 24-32 were underrepresented, and no mutations leading to a premature truncation were found. Studies of recurrent mutations and affected family members of propositi with only one major clinical criterion argue for a clinical continuum between such phenotypes and classical MFS. Using strict definitions, we conclude that patients with FBN1 mutation and only one major clinical criterion or with only minor clinical criteria of one or more organ system do exist but represent only 5% of the adult cohort.
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Child</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Cardiological Sciences, St. George's Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="05"><s1>Center for Medical Genetics, Ghent University Hospital</s1><s2>Ghent</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Belgique</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Institute of Genetic Medicine, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine</s1><s2>Baltimore, Maryland</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C." last="Binquet">C. 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Gautier</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centre d'lnvestigation Clinique-Épidémiologie Clinique/Essais Cliniques, CHU Dijon</s1><s2>Dijon</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Inserm, CIE1</s1><s2>Dijon</s2><s3>FRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Arbustini, E" sort="Arbustini, E" uniqKey="Arbustini E" first="E." last="Arbustini">E. Arbustini</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Centre for Inherited Cardiovascular Diseases, Foundation IRCCS Policlinico San Matteo</s1><s2>Pavia</s2><s3>ITA</s3><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Mayer, K" sort="Mayer, K" uniqKey="Mayer K" first="K." last="Mayer">K. Mayer</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Center for Human Genetics and Laboratory Medicine</s1><s2>Martinsried</s2><s3>DEU</s3><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country></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"><inist:fA14 i1="11"><s1>Institut für Humangenetik</s1><s2>Hannover</s2><s3>DEU</s3><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Kiotsekoglou, A" sort="Kiotsekoglou, A" uniqKey="Kiotsekoglou A" first="A." last="Kiotsekoglou">A. Kiotsekoglou</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Institute of Genetic Medicine, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine</s1><s2>Baltimore, Maryland</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Comeglio, P" sort="Comeglio, P" uniqKey="Comeglio P" first="P." last="Comeglio">P. Comeglio</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Institute of Genetic Medicine, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine</s1><s2>Baltimore, Maryland</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Grasso, M" sort="Grasso, M" uniqKey="Grasso M" first="M." last="Grasso">M. Grasso</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Centre for Inherited Cardiovascular Diseases, Foundation IRCCS Policlinico San Matteo</s1><s2>Pavia</s2><s3>ITA</s3><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Beroud, C" sort="Beroud, C" uniqKey="Beroud C" first="C." last="Beroud">C. Beroud</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U827</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Université Montpellier I</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>CHU Montpellier, Hôpital Arnault de Villeneuve, Laboratoire de Génétique Moléculaire</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></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"><inist:fA14 i1="02"><s1>Centre d'lnvestigation Clinique-Épidémiologie Clinique/Essais Cliniques, CHU Dijon</s1><s2>Dijon</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Inserm, CIE1</s1><s2>Dijon</s2><s3>FRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Claustres, M" sort="Claustres, M" uniqKey="Claustres M" first="M." last="Claustres">M. Claustres</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U827</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Université Montpellier I</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>CHU Montpellier, Hôpital Arnault de Villeneuve, Laboratoire de Génétique Moléculaire</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Stheneur, C" sort="Stheneur, C" uniqKey="Stheneur C" first="C." last="Stheneur">C. Stheneur</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie</s1><s2>Boulogne</s2><s3>FRA</s3><sZ>17 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Université Versailles-Saint Ouentin en Yvelines, UFR P.I.F.O</s1><s2>Garches</s2><s3>FRA</s3><sZ>17 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Bouchot, O" sort="Bouchot, O" uniqKey="Bouchot O" first="O." last="Bouchot">O. Bouchot</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Chirurgie Cardiovasculaire, CHU le Bocage</s1><s2>Dijon</s2><s3>FRA</s3><sZ>18 aut.</sZ></inist:fA14><country>France</country></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"><inist:fA14 i1="16"><s1>Cardiologie, CHU</s1><s2>Dijon</s2><s3>FRA</s3><sZ>19 aut.</sZ></inist:fA14><country>France</country></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"><inist:fA14 i1="17"><s1>Institut für Medizinische Genetik, Universitätsmedizin Charité</s1><s2>Berlin</s2><s3>DEU</s3><sZ>20 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Ades, L" sort="Ades, L" uniqKey="Ades L" first="L." last="Ades">L. Ades</name><affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Marfan Research Group, The Children's Hospital</s1><s2>Westmead, Sydney</s2><s3>AUS</s3><sZ>21 aut.</sZ></inist:fA14><country>Australie</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Discipline of Paediatrics and Child Health, University of Sydney</s1><s2>Sydney</s2><s3>AUS</s3><sZ>21 aut.</sZ></inist:fA14><country>Australie</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Department of Clinical Genetics, The Children's Hospital</s1><s2>Westmead, Sydney</s2><s3>AUS</s3><sZ>21 aut.</sZ></inist:fA14><country>Australie</country></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"><inist:fA14 i1="05"><s1>Center for Medical Genetics, Ghent University Hospital</s1><s2>Ghent</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author><author><name sortKey="Coucke, P" sort="Coucke, P" uniqKey="Coucke P" first="P." last="Coucke">P. Coucke</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Center for Medical Genetics, Ghent University Hospital</s1><s2>Ghent</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author><author><name sortKey="Francke, U" sort="Francke, U" uniqKey="Francke U" first="U." last="Francke">U. Francke</name><affiliation wicri:level="1"><inist:fA14 i1="21"><s1>Departments of Genetics and Pediatrics, Stanford University Medical Center</s1><s2>Stanford, California</s2><s3>USA</s3><sZ>24 aut.</sZ></inist:fA14><country>États-Unis</country></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"><inist:fA14 i1="05"><s1>Center for Medical Genetics, Ghent University Hospital</s1><s2>Ghent</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author><author><name sortKey="Boileau, C" sort="Boileau, C" uniqKey="Boileau C" first="C." last="Boileau">C. Boileau</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Université Versailles-Saint Ouentin en Yvelines, UFR P.I.F.O</s1><s2>Garches</s2><s3>FRA</s3><sZ>17 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="22"><s1>AP-HP, Hôpital Ambroise Paré, Laboratoire de Génétique Moléculaire</s1><s2>Boulogne</s2><s3>FRA</s3><sZ>26 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="23"><s1>AP-HP, Hôpital Bichat, Consultation Pluridisciplinaire Marfan</s1><s2>Paris</s2><s3>FRA</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Jondeau, G" sort="Jondeau, G" uniqKey="Jondeau G" first="G." last="Jondeau">G. Jondeau</name><affiliation wicri:level="1"><inist:fA14 i1="23"><s1>AP-HP, Hôpital Bichat, Consultation Pluridisciplinaire Marfan</s1><s2>Paris</s2><s3>FRA</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>France</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">09-0201037</idno><date when="2009">2009</date><idno type="stanalyst">PASCAL 09-0201037 INIST</idno><idno type="RBID">Pascal:09-0201037</idno><idno type="wicri:Area/PascalFrancis/Corpus">002E38</idno><idno type="wicri:Area/PascalFrancis/Curation">003182</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome : Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion</title><author><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L." last="Faivre">L. Faivre</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre de Génétique, CHU Dijon</s1><s2>Dijon</s2><s3>FRA</s3><sZ>1 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centre d'lnvestigation Clinique-Épidémiologie Clinique/Essais Cliniques, CHU Dijon</s1><s2>Dijon</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Collod Beroud, G" sort="Collod Beroud, G" uniqKey="Collod Beroud G" first="G." last="Collod-Beroud">G. Collod-Beroud</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U827</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Université Montpellier I</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Callewaert, B" sort="Callewaert, B" uniqKey="Callewaert B" first="B." last="Callewaert">B. Callewaert</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Center for Medical Genetics, Ghent University Hospital</s1><s2>Ghent</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author><author><name sortKey="Child, A" sort="Child, A" uniqKey="Child A" first="A." last="Child">A. Child</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Cardiological Sciences, St. George's Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="05"><s1>Center for Medical Genetics, Ghent University Hospital</s1><s2>Ghent</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Belgique</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Institute of Genetic Medicine, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine</s1><s2>Baltimore, Maryland</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C." last="Binquet">C. Binquet</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centre d'lnvestigation Clinique-Épidémiologie Clinique/Essais Cliniques, CHU Dijon</s1><s2>Dijon</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Inserm, CIE1</s1><s2>Dijon</s2><s3>FRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Gautier, E" sort="Gautier, E" uniqKey="Gautier E" first="E." last="Gautier">E. Gautier</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centre d'lnvestigation Clinique-Épidémiologie Clinique/Essais Cliniques, CHU Dijon</s1><s2>Dijon</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Inserm, CIE1</s1><s2>Dijon</s2><s3>FRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Arbustini, E" sort="Arbustini, E" uniqKey="Arbustini E" first="E." last="Arbustini">E. Arbustini</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Centre for Inherited Cardiovascular Diseases, Foundation IRCCS Policlinico San Matteo</s1><s2>Pavia</s2><s3>ITA</s3><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Mayer, K" sort="Mayer, K" uniqKey="Mayer K" first="K." last="Mayer">K. Mayer</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Center for Human Genetics and Laboratory Medicine</s1><s2>Martinsried</s2><s3>DEU</s3><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country></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"><inist:fA14 i1="11"><s1>Institut für Humangenetik</s1><s2>Hannover</s2><s3>DEU</s3><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Kiotsekoglou, A" sort="Kiotsekoglou, A" uniqKey="Kiotsekoglou A" first="A." last="Kiotsekoglou">A. Kiotsekoglou</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Institute of Genetic Medicine, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine</s1><s2>Baltimore, Maryland</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Comeglio, P" sort="Comeglio, P" uniqKey="Comeglio P" first="P." last="Comeglio">P. Comeglio</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Institute of Genetic Medicine, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine</s1><s2>Baltimore, Maryland</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Grasso, M" sort="Grasso, M" uniqKey="Grasso M" first="M." last="Grasso">M. Grasso</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Centre for Inherited Cardiovascular Diseases, Foundation IRCCS Policlinico San Matteo</s1><s2>Pavia</s2><s3>ITA</s3><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Beroud, C" sort="Beroud, C" uniqKey="Beroud C" first="C." last="Beroud">C. Beroud</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U827</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Université Montpellier I</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>CHU Montpellier, Hôpital Arnault de Villeneuve, Laboratoire de Génétique Moléculaire</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></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"><inist:fA14 i1="02"><s1>Centre d'lnvestigation Clinique-Épidémiologie Clinique/Essais Cliniques, CHU Dijon</s1><s2>Dijon</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Inserm, CIE1</s1><s2>Dijon</s2><s3>FRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Claustres, M" sort="Claustres, M" uniqKey="Claustres M" first="M." last="Claustres">M. Claustres</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U827</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Université Montpellier I</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>CHU Montpellier, Hôpital Arnault de Villeneuve, Laboratoire de Génétique Moléculaire</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>14 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Stheneur, C" sort="Stheneur, C" uniqKey="Stheneur C" first="C." last="Stheneur">C. Stheneur</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie</s1><s2>Boulogne</s2><s3>FRA</s3><sZ>17 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Université Versailles-Saint Ouentin en Yvelines, UFR P.I.F.O</s1><s2>Garches</s2><s3>FRA</s3><sZ>17 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Bouchot, O" sort="Bouchot, O" uniqKey="Bouchot O" first="O." last="Bouchot">O. Bouchot</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Chirurgie Cardiovasculaire, CHU le Bocage</s1><s2>Dijon</s2><s3>FRA</s3><sZ>18 aut.</sZ></inist:fA14><country>France</country></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"><inist:fA14 i1="16"><s1>Cardiologie, CHU</s1><s2>Dijon</s2><s3>FRA</s3><sZ>19 aut.</sZ></inist:fA14><country>France</country></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"><inist:fA14 i1="17"><s1>Institut für Medizinische Genetik, Universitätsmedizin Charité</s1><s2>Berlin</s2><s3>DEU</s3><sZ>20 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Ades, L" sort="Ades, L" uniqKey="Ades L" first="L." last="Ades">L. Ades</name><affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Marfan Research Group, The Children's Hospital</s1><s2>Westmead, Sydney</s2><s3>AUS</s3><sZ>21 aut.</sZ></inist:fA14><country>Australie</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Discipline of Paediatrics and Child Health, University of Sydney</s1><s2>Sydney</s2><s3>AUS</s3><sZ>21 aut.</sZ></inist:fA14><country>Australie</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Department of Clinical Genetics, The Children's Hospital</s1><s2>Westmead, Sydney</s2><s3>AUS</s3><sZ>21 aut.</sZ></inist:fA14><country>Australie</country></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"><inist:fA14 i1="05"><s1>Center for Medical Genetics, Ghent University Hospital</s1><s2>Ghent</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author><author><name sortKey="Coucke, P" sort="Coucke, P" uniqKey="Coucke P" first="P." last="Coucke">P. Coucke</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Center for Medical Genetics, Ghent University Hospital</s1><s2>Ghent</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author><author><name sortKey="Francke, U" sort="Francke, U" uniqKey="Francke U" first="U." last="Francke">U. Francke</name><affiliation wicri:level="1"><inist:fA14 i1="21"><s1>Departments of Genetics and Pediatrics, Stanford University Medical Center</s1><s2>Stanford, California</s2><s3>USA</s3><sZ>24 aut.</sZ></inist:fA14><country>États-Unis</country></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"><inist:fA14 i1="05"><s1>Center for Medical Genetics, Ghent University Hospital</s1><s2>Ghent</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author><author><name sortKey="Boileau, C" sort="Boileau, C" uniqKey="Boileau C" first="C." last="Boileau">C. Boileau</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Université Versailles-Saint Ouentin en Yvelines, UFR P.I.F.O</s1><s2>Garches</s2><s3>FRA</s3><sZ>17 aut.</sZ><sZ>26 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="22"><s1>AP-HP, Hôpital Ambroise Paré, Laboratoire de Génétique Moléculaire</s1><s2>Boulogne</s2><s3>FRA</s3><sZ>26 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="23"><s1>AP-HP, Hôpital Bichat, Consultation Pluridisciplinaire Marfan</s1><s2>Paris</s2><s3>FRA</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Jondeau, G" sort="Jondeau, G" uniqKey="Jondeau G" first="G." last="Jondeau">G. Jondeau</name><affiliation wicri:level="1"><inist:fA14 i1="23"><s1>AP-HP, Hôpital Bichat, Consultation Pluridisciplinaire Marfan</s1><s2>Paris</s2><s3>FRA</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>France</country></affiliation></author></analytic><series><title level="j" type="main">American journal of medical genetics. Part A</title><title level="j" type="abbreviated">Am. j. med. genet., Part A</title><idno type="ISSN">1552-4825</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of medical genetics. Part A</title><title level="j" type="abbreviated">Am. j. med. genet., Part A</title><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Criterion</term><term>Diagnosis</term><term>Gene</term><term>Marfan syndrome</term><term>Mutation</term><term>Pathogenesis</term><term>Pathogenic</term><term>Patient</term><term>Phenotype</term><term>Symptomatology</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Syndrome de Marfan</term><term>Pathogène</term><term>Pathogénie</term><term>Mutation</term><term>Adulte</term><term>Diagnostic</term><term>Critère</term><term>Phénotype</term><term>Symptomatologie</term><term>Malade</term><term>Gène</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes. A proportion of patients carrying a FBN1 mutation does not meet diagnostic criteria for MFS, and are diagnosed with "other type I fibrillinopathy." In order to better describe this entity, we analyzed a subgroup of 146 out of 689 adult propositi with incomplete "clinical" international criteria (Ghent nosology) from a large collaborative international study including 1,009 propositi with a pathogenic FBN1 mutation. We focused on patients with only one major clinical criterion, [including isolated ectopia lentis (EL; 12 patients), isolated ascending aortic dilatation (17 patients), and isolated major skeletal manifestations (1 patient)] or with no major criterion but only minor criteria in 1 or more organ systems (16 patients). At least one component of the Ghent nosology, insufficient alone to make a minor criterion, was found in the majority of patients with isolated ascending aortic dilatation and isolated EL. In patients with isolated EL, missense mutations involving a cysteine were predominant, mutations in exons 24-32 were underrepresented, and no mutations leading to a premature truncation were found. Studies of recurrent mutations and affected family members of propositi with only one major clinical criterion argue for a clinical continuum between such phenotypes and classical MFS. Using strict definitions, we conclude that patients with FBN1 mutation and only one major clinical criterion or with only minor clinical criteria of one or more organ system do exist but represent only 5% of the adult cohort.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>1552-4825</s0></fA01><fA03 i2="1"><s0>Am. j. med. genet., Part A</s0></fA03><fA05><s2>149</s2></fA05><fA06><s2>5</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome : Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion</s1></fA08><fA11 i1="01" i2="1"><s1>FAIVRE (L.)</s1></fA11><fA11 i1="02" i2="1"><s1>COLLOD-BEROUD (G.)</s1></fA11><fA11 i1="03" i2="1"><s1>CALLEWAERT (B.)</s1></fA11><fA11 i1="04" i2="1"><s1>CHILD (A.)</s1></fA11><fA11 i1="05" i2="1"><s1>LOEYS (B. L.)</s1></fA11><fA11 i1="06" i2="1"><s1>BINQUET (C.)</s1></fA11><fA11 i1="07" i2="1"><s1>GAUTIER (E.)</s1></fA11><fA11 i1="08" i2="1"><s1>ARBUSTINI (E.)</s1></fA11><fA11 i1="09" i2="1"><s1>MAYER (K.)</s1></fA11><fA11 i1="10" i2="1"><s1>ARSLAN-KIRCHNER (M.)</s1></fA11><fA11 i1="11" i2="1"><s1>KIOTSEKOGLOU (A.)</s1></fA11><fA11 i1="12" i2="1"><s1>COMEGLIO (P.)</s1></fA11><fA11 i1="13" i2="1"><s1>GRASSO (M.)</s1></fA11><fA11 i1="14" i2="1"><s1>BEROUD (C.)</s1></fA11><fA11 i1="15" i2="1"><s1>BONITHON-KOPP (C.)</s1></fA11><fA11 i1="16" i2="1"><s1>CLAUSTRES (M.)</s1></fA11><fA11 i1="17" i2="1"><s1>STHENEUR (C.)</s1></fA11><fA11 i1="18" i2="1"><s1>BOUCHOT (O.)</s1></fA11><fA11 i1="19" i2="1"><s1>WOLF (J. E.)</s1></fA11><fA11 i1="20" i2="1"><s1>ROBINSON (P. N.)</s1></fA11><fA11 i1="21" i2="1"><s1>ADES (L.)</s1></fA11><fA11 i1="22" i2="1"><s1>DE BACKER (J.)</s1></fA11><fA11 i1="23" i2="1"><s1>COUCKE (P.)</s1></fA11><fA11 i1="24" i2="1"><s1>FRANCKE (U.)</s1></fA11><fA11 i1="25" i2="1"><s1>DE PAEPE (A.)</s1></fA11><fA11 i1="26" i2="1"><s1>BOILEAU (C.)</s1></fA11><fA11 i1="27" i2="1"><s1>JONDEAU (G.)</s1></fA11><fA14 i1="01"><s1>Centre de Génétique, CHU Dijon</s1><s2>Dijon</s2><s3>FRA</s3><sZ>1 aut.</sZ></fA14><fA14 i1="02"><s1>Centre d'lnvestigation Clinique-Épidémiologie Clinique/Essais Cliniques, CHU Dijon</s1><s2>Dijon</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></fA14><fA14 i1="03"><s1>INSERM, U827</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ></fA14><fA14 i1="04"><s1>Université Montpellier I</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ></fA14><fA14 i1="05"><s1>Center for Medical Genetics, Ghent University Hospital</s1><s2>Ghent</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>25 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Cardiological Sciences, St. George's Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ></fA14><fA14 i1="07"><s1>Institute of Genetic Medicine, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine</s1><s2>Baltimore, Maryland</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></fA14><fA14 i1="08"><s1>Inserm, CIE1</s1><s2>Dijon</s2><s3>FRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>15 aut.</sZ></fA14><fA14 i1="09"><s1>Centre for Inherited Cardiovascular Diseases, Foundation IRCCS Policlinico San Matteo</s1><s2>Pavia</s2><s3>ITA</s3><sZ>8 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="10"><s1>Center for Human Genetics and Laboratory Medicine</s1><s2>Martinsried</s2><s3>DEU</s3><sZ>9 aut.</sZ></fA14><fA14 i1="11"><s1>Institut für Humangenetik</s1><s2>Hannover</s2><s3>DEU</s3><sZ>10 aut.</sZ></fA14><fA14 i1="12"><s1>CHU Montpellier, Hôpital Arnault de Villeneuve, Laboratoire de Génétique Moléculaire</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>14 aut.</sZ><sZ>16 aut.</sZ></fA14><fA14 i1="13"><s1>AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie</s1><s2>Boulogne</s2><s3>FRA</s3><sZ>17 aut.</sZ></fA14><fA14 i1="14"><s1>Université Versailles-Saint Ouentin en Yvelines, UFR P.I.F.O</s1><s2>Garches</s2><s3>FRA</s3><sZ>17 aut.</sZ><sZ>26 aut.</sZ></fA14><fA14 i1="15"><s1>Chirurgie Cardiovasculaire, CHU le Bocage</s1><s2>Dijon</s2><s3>FRA</s3><sZ>18 aut.</sZ></fA14><fA14 i1="16"><s1>Cardiologie, CHU</s1><s2>Dijon</s2><s3>FRA</s3><sZ>19 aut.</sZ></fA14><fA14 i1="17"><s1>Institut für Medizinische Genetik, Universitätsmedizin Charité</s1><s2>Berlin</s2><s3>DEU</s3><sZ>20 aut.</sZ></fA14><fA14 i1="18"><s1>Marfan Research Group, The Children's Hospital</s1><s2>Westmead, Sydney</s2><s3>AUS</s3><sZ>21 aut.</sZ></fA14><fA14 i1="19"><s1>Discipline of Paediatrics and Child Health, University of Sydney</s1><s2>Sydney</s2><s3>AUS</s3><sZ>21 aut.</sZ></fA14><fA14 i1="20"><s1>Department of Clinical Genetics, The Children's Hospital</s1><s2>Westmead, Sydney</s2><s3>AUS</s3><sZ>21 aut.</sZ></fA14><fA14 i1="21"><s1>Departments of Genetics and Pediatrics, Stanford University Medical Center</s1><s2>Stanford, California</s2><s3>USA</s3><sZ>24 aut.</sZ></fA14><fA14 i1="22"><s1>AP-HP, Hôpital Ambroise Paré, Laboratoire de Génétique Moléculaire</s1><s2>Boulogne</s2><s3>FRA</s3><sZ>26 aut.</sZ></fA14><fA14 i1="23"><s1>AP-HP, Hôpital Bichat, Consultation Pluridisciplinaire Marfan</s1><s2>Paris</s2><s3>FRA</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ></fA14><fA20><s1>854-860</s1></fA20><fA21><s1>2009</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>17405A</s2><s5>354000186012200050</s5></fA43><fA44><s0>0000</s0><s1>© 2009 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>1 p.1/4</s0></fA45><fA47 i1="01" i2="1"><s0>09-0201037</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>American journal of medical genetics. Part A</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes. A proportion of patients carrying a FBN1 mutation does not meet diagnostic criteria for MFS, and are diagnosed with "other type I fibrillinopathy." In order to better describe this entity, we analyzed a subgroup of 146 out of 689 adult propositi with incomplete "clinical" international criteria (Ghent nosology) from a large collaborative international study including 1,009 propositi with a pathogenic FBN1 mutation. We focused on patients with only one major clinical criterion, [including isolated ectopia lentis (EL; 12 patients), isolated ascending aortic dilatation (17 patients), and isolated major skeletal manifestations (1 patient)] or with no major criterion but only minor criteria in 1 or more organ systems (16 patients). At least one component of the Ghent nosology, insufficient alone to make a minor criterion, was found in the majority of patients with isolated ascending aortic dilatation and isolated EL. In patients with isolated EL, missense mutations involving a cysteine were predominant, mutations in exons 24-32 were underrepresented, and no mutations leading to a premature truncation were found. Studies of recurrent mutations and affected family members of propositi with only one major clinical criterion argue for a clinical continuum between such phenotypes and classical MFS. Using strict definitions, we conclude that patients with FBN1 mutation and only one major clinical criterion or with only minor clinical criteria of one or more organ system do exist but represent only 5% of the adult cohort.</s0></fC01><fC02 i1="01" i2="X"><s0>002B23</s0></fC02><fC02 i1="02" i2="X"><s0>002B07</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Syndrome de Marfan</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Marfan syndrome</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Marfan síndrome</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pathogène</s0><s5>09</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Pathogenic</s0><s5>09</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Patógeno</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Pathogénie</s0><s5>10</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Pathogenesis</s0><s5>10</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Patogenia</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Mutation</s0><s5>11</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Mutation</s0><s5>11</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Mutación</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Adulte</s0><s5>12</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Adult</s0><s5>12</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Adulto</s0><s5>12</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Diagnostic</s0><s5>13</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Diagnosis</s0><s5>13</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Diagnóstico</s0><s5>13</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Critère</s0><s5>14</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Criterion</s0><s5>14</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Criterio</s0><s5>14</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Phénotype</s0><s5>15</s5></fC03><fC03 i1="08" i2="X" l="ENG"><s0>Phenotype</s0><s5>15</s5></fC03><fC03 i1="08" i2="X" l="SPA"><s0>Fenotipo</s0><s5>15</s5></fC03><fC03 i1="09" i2="X" l="FRE"><s0>Symptomatologie</s0><s5>16</s5></fC03><fC03 i1="09" i2="X" l="ENG"><s0>Symptomatology</s0><s5>16</s5></fC03><fC03 i1="09" i2="X" l="SPA"><s0>Sintomatología</s0><s5>16</s5></fC03><fC03 i1="10" i2="X" l="FRE"><s0>Malade</s0><s5>18</s5></fC03><fC03 i1="10" i2="X" l="ENG"><s0>Patient</s0><s5>18</s5></fC03><fC03 i1="10" i2="X" l="SPA"><s0>Enfermo</s0><s5>18</s5></fC03><fC03 i1="11" i2="X" l="FRE"><s0>Gène</s0><s5>19</s5></fC03><fC03 i1="11" i2="X" l="ENG"><s0>Gene</s0><s5>19</s5></fC03><fC03 i1="11" i2="X" l="SPA"><s0>Gen</s0><s5>19</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Homme</s0></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Human</s0></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Maladie héréditaire</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Genetic disease</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0><s5>37</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Maladie de système</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Systemic disease</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad sistémica</s0><s5>38</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du tissu conjonctif</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Connective tissue disease</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Tejido conjuntivo patología</s0><s5>39</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Pathologie du tissu élastique</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Elastic tissue disease</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Tejido elástico patología</s0><s5>40</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Pathologie de la peau</s0><s5>41</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Skin disease</s0><s5>41</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Piel patología</s0><s5>41</s5></fC07><fN21><s1>145</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome : Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion
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