Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year
Identifieur interne : 001602 ( PascalFrancis/Corpus ); précédent : 001601; suivant : 001603Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year
Auteurs : Chantal Stheneur ; Laurence Faivre ; Gwenaelle Collod-Beroud ; Elodie Gautier ; Christine Binquet ; Claire Bonithon-Kopp ; Mireille Claustres ; Anne H. Child ; Eloisa Arbustini ; Lesley C. Ades ; Uta Francke ; Karin Mayer ; Mine Arslan-Kirchner ; Anne De Paepe ; Bertrand Chevallier ; Damien Bonnet ; Guillaume Jondeau ; Catherine BoileauSource :
- Pediatric research [ 0031-3998 ] ; 2011.
Descripteurs français
English descriptors
Abstract
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical and molecular prognostic factors that could be associated with length of survival. Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular insufficiency) were included in this study. Clinical and molecular data were correlated to survival. Among the 60 individuals, 38 had died, 82% died before the age of 1 y, mostly because of congestive heart failure. Three probands reached adult-hood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FUN1 mutations were found outside of the exon 24-32 region (in exons 4 and 21). Mutations in exons 25-26 were overrepresented and were associated with shorter survival (p = 0.03). We report the largest genotyped series of probands with MFS diagnosed before 1 y of life. In this population, factors significantly associated with shorter survival are presence of valvular insufficiencies or diaphragmatic hernia in addition to a mutation in exons 25 or 26.
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Format Inist (serveur)
| NO : | PASCAL 12-0086552 INIST |
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| ET : | Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year |
| AU : | STHENEUR (Chantal); FAIVRE (Laurence); COLLOD-BEROUD (Gwenaelle); GAUTIER (Elodie); BINQUET (Christine); BONITHON-KOPP (Claire); CLAUSTRES (Mireille); CHILD (Anne H.); ARBUSTINI (Eloisa); ADES (Lesley C.); FRANCKE (Uta); MAYER (Karin); ARSLAN-KIRCHNER (Mine); DE PAEPE (Anne); CHEVALLIER (Bertrand); BONNET (Damien); JONDEAU (Guillaume); BOILEAU (Catherine) |
| AF : | Service de Pédiatrie Hôpital Ambroise Paré/Boulogne, 92100/France (1 aut., 15 aut.); Consultation multidisciplinaire Marfan Hôpital Bichat/Paris, 75018/France (17 aut.); Centre de Génétique CHUDijon/Dijon, 21000/France (2 aut.); Centre d'Investigation Clinique- Epidémiologie-Clinique/essais cliniques CHU Dijon/Dijon, 21000/France (4 aut., 5 aut., 6 aut., 18 aut.); INSERM, U827 Université Montpellier/Montpellier, 34000/France (3 aut., 7 aut.); Department of Cardiological Sciences St Georges Hospital/London SW17 0RE/Royaume-Uni (8 aut.); Molecular Diagnostic Division IRCCS Foundation San Matteo Hospital/Pavia, 27100/Italie (9 aut.); Marfan Research Group and Department of Clinical Genetics Children's Hospital/Westmead, New South Wales 2145/Australie (10 aut.); Department of Genetics and Pediatrics Stanford University Medical Center/Stanford, California 94305/Etats-Unis (11 aut.); Center for Human Genetics and Laboratory Medicine/Martinsried, 82152/Allemagne (12 aut.); Institut für Humangenetik Hannover Medical School/Hannover, 30625/Allemagne (13 aut.); Center for Medical Genetics Ghent University Hospital/Ghent, 9000/Belgique (14 aut.); Service de Cardiologie Pediatrique Hôpital Necker-Enfants-Malades/Paris, 75015/France (16 aut.) |
| DT : | Publication en série; Niveau analytique |
| SO : | Pediatric research; ISSN 0031-3998; Coden PEREBL; Etats-Unis; Da. 2011; Vol. 69; No. 3; Pp. 265-270; Bibl. 23 ref. |
| LA : | Anglais |
| EA : | Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical and molecular prognostic factors that could be associated with length of survival. Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular insufficiency) were included in this study. Clinical and molecular data were correlated to survival. Among the 60 individuals, 38 had died, 82% died before the age of 1 y, mostly because of congestive heart failure. Three probands reached adult-hood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FUN1 mutations were found outside of the exon 24-32 region (in exons 4 and 21). Mutations in exons 25-26 were overrepresented and were associated with shorter survival (p = 0.03). We report the largest genotyped series of probands with MFS diagnosed before 1 y of life. In this population, factors significantly associated with shorter survival are presence of valvular insufficiencies or diaphragmatic hernia in addition to a mutation in exons 25 or 26. |
| CC : | 002B01 |
| FD : | Pronostic; Mutation; Génétique; Diagnostic; Age; Pédiatrie |
| ED : | Prognosis; Mutation; Genetics; Diagnosis; Age; Pediatrics |
| SD : | Pronóstico; Mutación; Genética; Diagnóstico; Edad; Pediatría |
| LO : | INIST-3956.354000192015580150 |
| ID : | 12-0086552 |
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Pascal:12-0086552Le document en format XML
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last="Arslan-Kirchner">Mine Arslan-Kirchner</name><affiliation><inist:fA14 i1="11"><s1>Institut für Humangenetik Hannover Medical School</s1><s2>Hannover, 30625</s2><s3>DEU</s3><sZ>13 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><affiliation><inist:fA14 i1="12"><s1>Center for Medical Genetics Ghent University Hospital</s1><s2>Ghent, 9000</s2><s3>BEL</s3><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Chevallier, Bertrand" sort="Chevallier, Bertrand" uniqKey="Chevallier B" first="Bertrand" last="Chevallier">Bertrand Chevallier</name><affiliation><inist:fA14 i1="01"><s1>Service de Pédiatrie Hôpital Ambroise Paré</s1><s2>Boulogne, 92100</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Bonnet, Damien" sort="Bonnet, Damien" uniqKey="Bonnet D" first="Damien" last="Bonnet">Damien Bonnet</name><affiliation><inist:fA14 i1="13"><s1>Service de Cardiologie Pediatrique Hôpital Necker-Enfants-Malades</s1><s2>Paris, 75015</s2><s3>FRA</s3><sZ>16 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Jondeau, Guillaume" sort="Jondeau, Guillaume" uniqKey="Jondeau G" first="Guillaume" last="Jondeau">Guillaume Jondeau</name><affiliation><inist:fA14 i1="02"><s1>Consultation multidisciplinaire Marfan Hôpital Bichat</s1><s2>Paris, 75018</s2><s3>FRA</s3><sZ>17 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name><affiliation><inist:fA14 i1="04"><s1>Centre d'Investigation Clinique- Epidémiologie-Clinique/essais cliniques CHU Dijon</s1><s2>Dijon, 21000</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0086552</idno><date when="2011">2011</date><idno type="stanalyst">PASCAL 12-0086552 INIST</idno><idno type="RBID">Pascal:12-0086552</idno><idno type="wicri:Area/PascalFrancis/Corpus">001602</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year</title><author><name sortKey="Stheneur, Chantal" sort="Stheneur, Chantal" uniqKey="Stheneur C" first="Chantal" last="Stheneur">Chantal Stheneur</name><affiliation><inist:fA14 i1="01"><s1>Service de Pédiatrie Hôpital Ambroise Paré</s1><s2>Boulogne, 92100</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation><inist:fA14 i1="03"><s1>Centre de Génétique CHUDijon</s1><s2>Dijon, 21000</s2><s3>FRA</s3><sZ>2 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name><affiliation><inist:fA14 i1="05"><s1>INSERM, U827 Université Montpellier</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>7 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Gautier, Elodie" sort="Gautier, Elodie" uniqKey="Gautier E" first="Elodie" last="Gautier">Elodie Gautier</name><affiliation><inist:fA14 i1="04"><s1>Centre d'Investigation Clinique- Epidémiologie-Clinique/essais cliniques CHU Dijon</s1><s2>Dijon, 21000</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name><affiliation><inist:fA14 i1="04"><s1>Centre d'Investigation Clinique- Epidémiologie-Clinique/essais cliniques CHU Dijon</s1><s2>Dijon, 21000</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Bonithon Kopp, Claire" sort="Bonithon Kopp, Claire" uniqKey="Bonithon Kopp C" first="Claire" last="Bonithon-Kopp">Claire Bonithon-Kopp</name><affiliation><inist:fA14 i1="04"><s1>Centre d'Investigation Clinique- Epidémiologie-Clinique/essais cliniques CHU Dijon</s1><s2>Dijon, 21000</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><affiliation><inist:fA14 i1="05"><s1>INSERM, U827 Université Montpellier</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>7 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Child, Anne H" sort="Child, Anne H" uniqKey="Child A" first="Anne H." last="Child">Anne H. Child</name><affiliation><inist:fA14 i1="06"><s1>Department of Cardiological Sciences St Georges Hospital</s1><s2>London SW17 0RE</s2><s3>GBR</s3><sZ>8 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Arbustini, Eloisa" sort="Arbustini, Eloisa" uniqKey="Arbustini E" first="Eloisa" last="Arbustini">Eloisa Arbustini</name><affiliation><inist:fA14 i1="07"><s1>Molecular Diagnostic Division IRCCS Foundation San Matteo Hospital</s1><s2>Pavia, 27100</s2><s3>ITA</s3><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Ades, Lesley C" sort="Ades, Lesley C" uniqKey="Ades L" first="Lesley C." last="Ades">Lesley C. Ades</name><affiliation><inist:fA14 i1="08"><s1>Marfan Research Group and Department of Clinical Genetics Children's Hospital</s1><s2>Westmead, New South Wales 2145</s2><s3>AUS</s3><sZ>10 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Francke, Uta" sort="Francke, Uta" uniqKey="Francke U" first="Uta" last="Francke">Uta Francke</name><affiliation><inist:fA14 i1="09"><s1>Department of Genetics and Pediatrics Stanford University Medical Center</s1><s2>Stanford, California 94305</s2><s3>USA</s3><sZ>11 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Mayer, Karin" sort="Mayer, Karin" uniqKey="Mayer K" first="Karin" last="Mayer">Karin Mayer</name><affiliation><inist:fA14 i1="10"><s1>Center for Human Genetics and Laboratory Medicine</s1><s2>Martinsried, 82152</s2><s3>DEU</s3><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Arslan Kirchner, Mine" sort="Arslan Kirchner, Mine" uniqKey="Arslan Kirchner M" first="Mine" last="Arslan-Kirchner">Mine Arslan-Kirchner</name><affiliation><inist:fA14 i1="11"><s1>Institut für Humangenetik Hannover Medical School</s1><s2>Hannover, 30625</s2><s3>DEU</s3><sZ>13 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><affiliation><inist:fA14 i1="12"><s1>Center for Medical Genetics Ghent University Hospital</s1><s2>Ghent, 9000</s2><s3>BEL</s3><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Chevallier, Bertrand" sort="Chevallier, Bertrand" uniqKey="Chevallier B" first="Bertrand" last="Chevallier">Bertrand Chevallier</name><affiliation><inist:fA14 i1="01"><s1>Service de Pédiatrie Hôpital Ambroise Paré</s1><s2>Boulogne, 92100</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Bonnet, Damien" sort="Bonnet, Damien" uniqKey="Bonnet D" first="Damien" last="Bonnet">Damien Bonnet</name><affiliation><inist:fA14 i1="13"><s1>Service de Cardiologie Pediatrique Hôpital Necker-Enfants-Malades</s1><s2>Paris, 75015</s2><s3>FRA</s3><sZ>16 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Jondeau, Guillaume" sort="Jondeau, Guillaume" uniqKey="Jondeau G" first="Guillaume" last="Jondeau">Guillaume Jondeau</name><affiliation><inist:fA14 i1="02"><s1>Consultation multidisciplinaire Marfan Hôpital Bichat</s1><s2>Paris, 75018</s2><s3>FRA</s3><sZ>17 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name><affiliation><inist:fA14 i1="04"><s1>Centre d'Investigation Clinique- Epidémiologie-Clinique/essais cliniques CHU Dijon</s1><s2>Dijon, 21000</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation></author></analytic><series><title level="j" type="main">Pediatric research</title><title level="j" type="abbreviated">Pediatr. res.</title><idno type="ISSN">0031-3998</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Pediatric research</title><title level="j" type="abbreviated">Pediatr. res.</title><idno type="ISSN">0031-3998</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age</term><term>Diagnosis</term><term>Genetics</term><term>Mutation</term><term>Pediatrics</term><term>Prognosis</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Pronostic</term><term>Mutation</term><term>Génétique</term><term>Diagnostic</term><term>Age</term><term>Pédiatrie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical and molecular prognostic factors that could be associated with length of survival. Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular insufficiency) were included in this study. Clinical and molecular data were correlated to survival. Among the 60 individuals, 38 had died, 82% died before the age of 1 y, mostly because of congestive heart failure. Three probands reached adult-hood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FUN1 mutations were found outside of the exon 24-32 region (in exons 4 and 21). Mutations in exons 25-26 were overrepresented and were associated with shorter survival (p = 0.03). We report the largest genotyped series of probands with MFS diagnosed before 1 y of life. In this population, factors significantly associated with shorter survival are presence of valvular insufficiencies or diaphragmatic hernia in addition to a mutation in exons 25 or 26.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0031-3998</s0></fA01><fA02 i1="01"><s0>PEREBL</s0></fA02><fA03 i2="1"><s0>Pediatr. res.</s0></fA03><fA05><s2>69</s2></fA05><fA06><s2>3</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year</s1></fA08><fA11 i1="01" i2="1"><s1>STHENEUR (Chantal)</s1></fA11><fA11 i1="02" i2="1"><s1>FAIVRE (Laurence)</s1></fA11><fA11 i1="03" i2="1"><s1>COLLOD-BEROUD (Gwenaelle)</s1></fA11><fA11 i1="04" i2="1"><s1>GAUTIER (Elodie)</s1></fA11><fA11 i1="05" i2="1"><s1>BINQUET (Christine)</s1></fA11><fA11 i1="06" i2="1"><s1>BONITHON-KOPP (Claire)</s1></fA11><fA11 i1="07" i2="1"><s1>CLAUSTRES (Mireille)</s1></fA11><fA11 i1="08" i2="1"><s1>CHILD (Anne H.)</s1></fA11><fA11 i1="09" i2="1"><s1>ARBUSTINI (Eloisa)</s1></fA11><fA11 i1="10" i2="1"><s1>ADES (Lesley C.)</s1></fA11><fA11 i1="11" i2="1"><s1>FRANCKE (Uta)</s1></fA11><fA11 i1="12" i2="1"><s1>MAYER (Karin)</s1></fA11><fA11 i1="13" i2="1"><s1>ARSLAN-KIRCHNER (Mine)</s1></fA11><fA11 i1="14" i2="1"><s1>DE PAEPE (Anne)</s1></fA11><fA11 i1="15" i2="1"><s1>CHEVALLIER (Bertrand)</s1></fA11><fA11 i1="16" i2="1"><s1>BONNET (Damien)</s1></fA11><fA11 i1="17" i2="1"><s1>JONDEAU (Guillaume)</s1></fA11><fA11 i1="18" i2="1"><s1>BOILEAU (Catherine)</s1></fA11><fA14 i1="01"><s1>Service de Pédiatrie Hôpital Ambroise Paré</s1><s2>Boulogne, 92100</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ></fA14><fA14 i1="02"><s1>Consultation multidisciplinaire Marfan Hôpital Bichat</s1><s2>Paris, 75018</s2><s3>FRA</s3><sZ>17 aut.</sZ></fA14><fA14 i1="03"><s1>Centre de Génétique CHUDijon</s1><s2>Dijon, 21000</s2><s3>FRA</s3><sZ>2 aut.</sZ></fA14><fA14 i1="04"><s1>Centre d'Investigation Clinique- Epidémiologie-Clinique/essais cliniques CHU Dijon</s1><s2>Dijon, 21000</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>18 aut.</sZ></fA14><fA14 i1="05"><s1>INSERM, U827 Université Montpellier</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>7 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Cardiological Sciences St Georges Hospital</s1><s2>London SW17 0RE</s2><s3>GBR</s3><sZ>8 aut.</sZ></fA14><fA14 i1="07"><s1>Molecular Diagnostic Division IRCCS Foundation San Matteo Hospital</s1><s2>Pavia, 27100</s2><s3>ITA</s3><sZ>9 aut.</sZ></fA14><fA14 i1="08"><s1>Marfan Research Group and Department of Clinical Genetics Children's Hospital</s1><s2>Westmead, New South Wales 2145</s2><s3>AUS</s3><sZ>10 aut.</sZ></fA14><fA14 i1="09"><s1>Department of Genetics and Pediatrics Stanford University Medical Center</s1><s2>Stanford, California 94305</s2><s3>USA</s3><sZ>11 aut.</sZ></fA14><fA14 i1="10"><s1>Center for Human Genetics and Laboratory Medicine</s1><s2>Martinsried, 82152</s2><s3>DEU</s3><sZ>12 aut.</sZ></fA14><fA14 i1="11"><s1>Institut für Humangenetik Hannover Medical School</s1><s2>Hannover, 30625</s2><s3>DEU</s3><sZ>13 aut.</sZ></fA14><fA14 i1="12"><s1>Center for Medical Genetics Ghent University Hospital</s1><s2>Ghent, 9000</s2><s3>BEL</s3><sZ>14 aut.</sZ></fA14><fA14 i1="13"><s1>Service de Cardiologie Pediatrique Hôpital Necker-Enfants-Malades</s1><s2>Paris, 75015</s2><s3>FRA</s3><sZ>16 aut.</sZ></fA14><fA20><s1>265-270</s1></fA20><fA21><s1>2011</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>3956</s2><s5>354000192015580150</s5></fA43><fA44><s0>0000</s0><s1>© 2012 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>23 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>12-0086552</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Pediatric research</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical and molecular prognostic factors that could be associated with length of survival. Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular insufficiency) were included in this study. Clinical and molecular data were correlated to survival. Among the 60 individuals, 38 had died, 82% died before the age of 1 y, mostly because of congestive heart failure. Three probands reached adult-hood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FUN1 mutations were found outside of the exon 24-32 region (in exons 4 and 21). Mutations in exons 25-26 were overrepresented and were associated with shorter survival (p = 0.03). We report the largest genotyped series of probands with MFS diagnosed before 1 y of life. In this population, factors significantly associated with shorter survival are presence of valvular insufficiencies or diaphragmatic hernia in addition to a mutation in exons 25 or 26.</s0></fC01><fC02 i1="01" i2="X"><s0>002B01</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Pronostic</s0><s5>02</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Prognosis</s0><s5>02</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Pronóstico</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Mutation</s0><s5>03</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Mutation</s0><s5>03</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Mutación</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Génétique</s0><s5>05</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Genetics</s0><s5>05</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Genética</s0><s5>05</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Diagnostic</s0><s5>06</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Diagnosis</s0><s5>06</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Diagnóstico</s0><s5>06</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Age</s0><s5>08</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Age</s0><s5>08</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Edad</s0><s5>08</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Pédiatrie</s0><s5>09</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Pediatrics</s0><s5>09</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Pediatría</s0><s5>09</s5></fC03><fN21><s1>065</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard><server><NO>PASCAL 12-0086552 INIST</NO><ET>Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year</ET><AU>STHENEUR (Chantal); FAIVRE (Laurence); COLLOD-BEROUD (Gwenaelle); GAUTIER (Elodie); BINQUET (Christine); BONITHON-KOPP (Claire); CLAUSTRES (Mireille); CHILD (Anne H.); ARBUSTINI (Eloisa); ADES (Lesley C.); FRANCKE (Uta); MAYER (Karin); ARSLAN-KIRCHNER (Mine); DE PAEPE (Anne); CHEVALLIER (Bertrand); BONNET (Damien); JONDEAU (Guillaume); BOILEAU (Catherine)</AU><AF>Service de Pédiatrie Hôpital Ambroise Paré/Boulogne, 92100/France (1 aut., 15 aut.); Consultation multidisciplinaire Marfan Hôpital Bichat/Paris, 75018/France (17 aut.); Centre de Génétique CHUDijon/Dijon, 21000/France (2 aut.); Centre d'Investigation Clinique- Epidémiologie-Clinique/essais cliniques CHU Dijon/Dijon, 21000/France (4 aut., 5 aut., 6 aut., 18 aut.); INSERM, U827 Université Montpellier/Montpellier, 34000/France (3 aut., 7 aut.); Department of Cardiological Sciences St Georges Hospital/London SW17 0RE/Royaume-Uni (8 aut.); Molecular Diagnostic Division IRCCS Foundation San Matteo Hospital/Pavia, 27100/Italie (9 aut.); Marfan Research Group and Department of Clinical Genetics Children's Hospital/Westmead, New South Wales 2145/Australie (10 aut.); Department of Genetics and Pediatrics Stanford University Medical Center/Stanford, California 94305/Etats-Unis (11 aut.); Center for Human Genetics and Laboratory Medicine/Martinsried, 82152/Allemagne (12 aut.); Institut für Humangenetik Hannover Medical School/Hannover, 30625/Allemagne (13 aut.); Center for Medical Genetics Ghent University Hospital/Ghent, 9000/Belgique (14 aut.); Service de Cardiologie Pediatrique Hôpital Necker-Enfants-Malades/Paris, 75015/France (16 aut.)</AF><DT>Publication en série; Niveau analytique</DT><SO>Pediatric research; ISSN 0031-3998; Coden PEREBL; Etats-Unis; Da. 2011; Vol. 69; No. 3; Pp. 265-270; Bibl. 23 ref.</SO><LA>Anglais</LA><EA>Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical and molecular prognostic factors that could be associated with length of survival. Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular insufficiency) were included in this study. Clinical and molecular data were correlated to survival. Among the 60 individuals, 38 had died, 82% died before the age of 1 y, mostly because of congestive heart failure. Three probands reached adult-hood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FUN1 mutations were found outside of the exon 24-32 region (in exons 4 and 21). Mutations in exons 25-26 were overrepresented and were associated with shorter survival (p = 0.03). We report the largest genotyped series of probands with MFS diagnosed before 1 y of life. In this population, factors significantly associated with shorter survival are presence of valvular insufficiencies or diaphragmatic hernia in addition to a mutation in exons 25 or 26.</EA><CC>002B01</CC><FD>Pronostic; Mutation; Génétique; Diagnostic; Age; Pédiatrie</FD><ED>Prognosis; Mutation; Genetics; Diagnosis; Age; Pediatrics</ED><SD>Pronóstico; Mutación; Genética; Diagnóstico; Edad; Pediatría</SD><LO>INIST-3956.354000192015580150</LO><ID>12-0086552</ID></server></inist></record>Pour manipuler ce document sous Unix (Dilib)
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