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Statements

Subject Item
n2:RIV%2F00216224%3A14740%2F14%3A00079336%21RIV15-MSM-14740___
rdf:type
skos:Concept n20:Vysledek
rdfs:seeAlso
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36480/epdf
dcterms:description
Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin 1 gene (FBN1). Neonatal form of MFS is rare and is associated with severe phenotype and a poor prognosis. We report on a newborn girl with neonatal MFS who displayed cyanosis and dyspnea on the first day of life. The main clinical features included mitral and tricuspid valve insufficiency, aortic root dilatation, arachnodactyly, and loose skin. Despite the presence of severe and inoperable heart anomalies, the girl was quite stable on symptomatic treatment and lived up to the 7th month of age when she died due to cardiorespiratory failure. Molecular-genetic studies revealed a novel intronic c.4211-32_-13del mutation in the FBN1 gene. Subsequent in vitro splicing analysis showed this mutation led to exon 35 skipping, presumably resulting in a deletion of 42 amino acids (p.Leu1405_Asp1446del). Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin 1 gene (FBN1). Neonatal form of MFS is rare and is associated with severe phenotype and a poor prognosis. We report on a newborn girl with neonatal MFS who displayed cyanosis and dyspnea on the first day of life. The main clinical features included mitral and tricuspid valve insufficiency, aortic root dilatation, arachnodactyly, and loose skin. Despite the presence of severe and inoperable heart anomalies, the girl was quite stable on symptomatic treatment and lived up to the 7th month of age when she died due to cardiorespiratory failure. Molecular-genetic studies revealed a novel intronic c.4211-32_-13del mutation in the FBN1 gene. Subsequent in vitro splicing analysis showed this mutation led to exon 35 skipping, presumably resulting in a deletion of 42 amino acids (p.Leu1405_Asp1446del).
dcterms:title
Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
skos:prefLabel
Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
skos:notation
RIV/00216224:14740/14:00079336!RIV15-MSM-14740___
n3:aktivita
n13:S n13:P n13:I
n3:aktivity
I, P(ED1.1.00/02.0068), S
n3:cisloPeriodika
6
n3:dodaniDat
n18:2015
n3:domaciTvurceVysledku
n15:3898636 n15:1271326
n3:druhVysledku
n14:J
n3:duvernostUdaju
n8:S
n3:entitaPredkladatele
n4:predkladatel
n3:idSjednocenehoVysledku
33091
n3:idVysledku
RIV/00216224:14740/14:00079336
n3:jazykVysledku
n17:eng
n3:klicovaSlova
neonatal Marfan syndrome; FBN1; fibrillin-1; splicing; splicing mutation
n3:klicoveSlovo
n12:splicing%20mutation n12:FBN1 n12:splicing n12:neonatal%20Marfan%20syndrome n12:fibrillin-1
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[549BBFE71F2D]
n3:nazevZdroje
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
n3:obor
n6:EB
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
10
n3:projekt
n9:ED1.1.00%2F02.0068
n3:rokUplatneniVysledku
n18:2014
n3:svazekPeriodika
164
n3:tvurceVysledku
Freiberger, Tomáš Baxová, A. Grodecká, Lucie Mazurová, Svatava Cibulková, P. Šípek, A. Magner, Michal Dvořáková, M. Honzík, Tomáš Zeman, J.
n3:wos
000335926600028
s:issn
1552-4825
s:numberOfPages
6
n19:doi
10.1002/ajmg.a.36480
n11:organizacniJednotka
14740