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Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year

Chantal Stheneur, Laurence Faivre, Gwenaelle Collod-Beroud, Elodie Gautier, Christine Binquet, Claira-e Bonithon-Kopp, Mireille Claustres, Anne H Child, Eloisa Arbustini and Lesley C Ades, et al. (2011) PEDIATRIC RESEARCH. 69(3). p.265-270
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 adulthood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FBN1 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. (Pediatr Res 69: 265-270, 2011)
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
GENOTYPE-PHENOTYPE CORRELATIONS, CLINICAL PHENOTYPES, NEONATAL MARFAN-SYNDROME, SERIES, FIBRILLIN-1, TGFBR2, DATABASE, GENE
journal title
PEDIATRIC RESEARCH
Pediatr. Res.
volume
69
issue
3
pages
265 - 270
Web of Science type
Article
Web of Science id
000287621700015
JCR category
PEDIATRICS
JCR impact factor
2.7 (2011)
JCR rank
19/113 (2011)
JCR quartile
1 (2011)
ISSN
0031-3998
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
1199109
handle
http://hdl.handle.net/1854/LU-1199109
date created
2011-03-30 11:28:12
date last changed
2011-04-29 13:37:19
@article{1199109,
  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 adulthood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FBN1 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. (Pediatr Res 69: 265-270, 2011)},
  author       = {Stheneur, Chantal and Faivre, Laurence and Collod-Beroud, Gwenaelle and Gautier, Elodie and Binquet, Christine and Bonithon-Kopp, Claira-e and Claustres, Mireille and Child, Anne H and Arbustini, Eloisa and Ades, Lesley C and Francke, Uta and Mayer, Karin and Arslan-Kirchner, Mine and De Paepe, Anne and Chevallier, Bertrand and Bonnet, Damien and Jondeau, Guillaume and Boileau, Catherine},
  issn         = {0031-3998},
  journal      = {PEDIATRIC RESEARCH},
  keyword      = {GENOTYPE-PHENOTYPE CORRELATIONS,CLINICAL PHENOTYPES,NEONATAL MARFAN-SYNDROME,SERIES,FIBRILLIN-1,TGFBR2,DATABASE,GENE},
  language     = {eng},
  number       = {3},
  pages        = {265--270},
  title        = {Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year},
  volume       = {69},
  year         = {2011},
}

Chicago
Stheneur, Chantal, Laurence Faivre, Gwenaelle Collod-Beroud, Elodie Gautier, Christine Binquet, Claira-e Bonithon-Kopp, Mireille Claustres, et al. 2011. “Prognosis Factors in Probands with an FBN1 Mutation Diagnosed Before the Age of 1 Year.” Pediatric Research 69 (3): 265–270.
APA
Stheneur, C., Faivre, L., Collod-Beroud, G., Gautier, E., Binquet, C., Bonithon-Kopp, C., Claustres, M., et al. (2011). Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. PEDIATRIC RESEARCH, 69(3), 265–270.
Vancouver
1.
Stheneur C, Faivre L, Collod-Beroud G, Gautier E, Binquet C, Bonithon-Kopp C, et al. Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. PEDIATRIC RESEARCH. 2011;69(3):265–70.
MLA
Stheneur, Chantal, Laurence Faivre, Gwenaelle Collod-Beroud, et al. “Prognosis Factors in Probands with an FBN1 Mutation Diagnosed Before the Age of 1 Year.” PEDIATRIC RESEARCH 69.3 (2011): 265–270. Print.