AustralieFrV1, Main, Exploration, bibRecord, 006795

Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

Identifieur interne : 006795 ( Main/Exploration ); précédent : 006794; suivant : 006796

Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

Auteurs : Chantal Stheneur [France] ; Laurence Faivre [France] ; Gwenaelle Collod-Beroud [France] ; Elodie Gautier [France] ; Christine Binquet [France] ; Claire Bonithon-Kopp [France] ; Mireille Claustres [France] ; Anne H. Child [Royaume-Uni] ; Eloisa Arbustini [Italie] ; Lesley C. Ades [Australie] ; Uta Francke [États-Unis] ; Karin Mayer [Allemagne] ; Mine Arslan-Kirchner [Allemagne] ; Anne De Paepe [Belgique] ; Bertrand Chevallier [France] ; Damien Bonnet [France] ; Guillaume Jondeau [France] ; Catherine Boileau [France]

Source :

Pediatric research [ 0031-3998 ] ; 2011.

RBID : Pascal:12-0086552

Descripteurs français

Pascal (Inist)
- Pronostic, Mutation, Génétique, Diagnostic, Age, Pédiatrie.
Wicri :
- topic : Génétique, Pédiatrie.

English descriptors

KwdEn :
- Age, Diagnosis, Genetics, Mutation, Pediatrics, Prognosis.

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.

Affiliations:

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

to stream PascalFrancis, to step Corpus: 001602
to stream PascalFrancis, to step Curation: 004909
to stream PascalFrancis, to step Checkpoint: 001753
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Le document en format XML

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<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>
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<author><name sortKey="Arbustini, Eloisa" sort="Arbustini, Eloisa" uniqKey="Arbustini E" first="Eloisa" last="Arbustini">Eloisa Arbustini</name>
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<s2>Pavia, 27100</s2>
<s3>ITA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Molecular Diagnostic Division IRCCS Foundation San Matteo Hospital</wicri:noRegion>
</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 wicri:level="1"><inist:fA14 i1="08"><s1>Marfan Research Group and Department of Clinical Genetics Children's Hospital</s1>
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</inist:fA14>
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<wicri:noRegion>Marfan Research Group and Department of Clinical Genetics Children's Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Francke, Uta" sort="Francke, Uta" uniqKey="Francke U" first="Uta" last="Francke">Uta Francke</name>
<affiliation wicri:level="1"><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>
<country>États-Unis</country>
<wicri:noRegion>Department of Genetics and Pediatrics Stanford University Medical Center</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mayer, Karin" sort="Mayer, Karin" uniqKey="Mayer K" first="Karin" last="Mayer">Karin Mayer</name>
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<s3>DEU</s3>
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<country>Allemagne</country>
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<wicri:noRegion>Center for Human Genetics and Laboratory Medicine</wicri:noRegion>
<wicri:noRegion>Center for Human Genetics and Laboratory Medicine</wicri:noRegion>
</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 wicri:level="3"><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>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</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 wicri:level="3"><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>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province de Flandre-Orientale</region>
<settlement type="city">Gand</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chevallier, Bertrand" sort="Chevallier, Bertrand" uniqKey="Chevallier B" first="Bertrand" last="Chevallier">Bertrand Chevallier</name>
<affiliation wicri:level="1"><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>
<country>France</country>
<wicri:noRegion>92100</wicri:noRegion>
<wicri:noRegion>Service de Pédiatrie Hôpital Ambroise Paré</wicri:noRegion>
<wicri:noRegion>Service de Pédiatrie Hôpital Ambroise Paré</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bonnet, Damien" sort="Bonnet, Damien" uniqKey="Bonnet D" first="Damien" last="Bonnet">Damien Bonnet</name>
<affiliation wicri:level="1"><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>
<country>France</country>
<wicri:noRegion>75015</wicri:noRegion>
<wicri:noRegion>Service de Cardiologie Pediatrique Hôpital Necker-Enfants-Malades</wicri:noRegion>
<wicri:noRegion>Service de Cardiologie Pediatrique Hôpital Necker-Enfants-Malades</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jondeau, Guillaume" sort="Jondeau, Guillaume" uniqKey="Jondeau G" first="Guillaume" last="Jondeau">Guillaume Jondeau</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Consultation multidisciplinaire Marfan Hôpital Bichat</s1>
<s2>Paris, 75018</s2>
<s3>FRA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name>
<affiliation wicri:level="3"><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>
<country>France</country>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
</placeName>
</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>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</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>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>France</li>
<li>Italie</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Basse-Saxe</li>
<li>Bourgogne</li>
<li>Bourgogne-Franche-Comté</li>
<li>Languedoc-Roussillon</li>
<li>Occitanie (région administrative)</li>
<li>Province de Flandre-Orientale</li>
<li>Île-de-France</li>
</region>
<settlement><li>Gand</li>
<li>Hanovre</li>
</settlement>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Stheneur, Chantal" sort="Stheneur, Chantal" uniqKey="Stheneur C" first="Chantal" last="Stheneur">Chantal Stheneur</name>
</region>
<name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name>
<name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name>
<name sortKey="Bonithon Kopp, Claire" sort="Bonithon Kopp, Claire" uniqKey="Bonithon Kopp C" first="Claire" last="Bonithon-Kopp">Claire Bonithon-Kopp</name>
<name sortKey="Bonnet, Damien" sort="Bonnet, Damien" uniqKey="Bonnet D" first="Damien" last="Bonnet">Damien Bonnet</name>
<name sortKey="Chevallier, Bertrand" sort="Chevallier, Bertrand" uniqKey="Chevallier B" first="Bertrand" last="Chevallier">Bertrand Chevallier</name>
<name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
<name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name>
<name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name>
<name sortKey="Gautier, Elodie" sort="Gautier, Elodie" uniqKey="Gautier E" first="Elodie" last="Gautier">Elodie Gautier</name>
<name sortKey="Jondeau, Guillaume" sort="Jondeau, Guillaume" uniqKey="Jondeau G" first="Guillaume" last="Jondeau">Guillaume Jondeau</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Child, Anne H" sort="Child, Anne H" uniqKey="Child A" first="Anne H." last="Child">Anne H. Child</name>
</noRegion>
</country>
<country name="Italie"><noRegion><name sortKey="Arbustini, Eloisa" sort="Arbustini, Eloisa" uniqKey="Arbustini E" first="Eloisa" last="Arbustini">Eloisa Arbustini</name>
</noRegion>
</country>
<country name="Australie"><noRegion><name sortKey="Ades, Lesley C" sort="Ades, Lesley C" uniqKey="Ades L" first="Lesley C." last="Ades">Lesley C. Ades</name>
</noRegion>
</country>
<country name="États-Unis"><noRegion><name sortKey="Francke, Uta" sort="Francke, Uta" uniqKey="Francke U" first="Uta" last="Francke">Uta Francke</name>
</noRegion>
</country>
<country name="Allemagne"><noRegion><name sortKey="Mayer, Karin" sort="Mayer, Karin" uniqKey="Mayer K" first="Karin" last="Mayer">Karin Mayer</name>
</noRegion>
<name sortKey="Arslan Kirchner, Mine" sort="Arslan Kirchner, Mine" uniqKey="Arslan Kirchner M" first="Mine" last="Arslan-Kirchner">Mine Arslan-Kirchner</name>
</country>
<country name="Belgique"><region name="Province de Flandre-Orientale"><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name>
</region>
</country>
</tree>
</affiliations>
</record>

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Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

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