About: Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36480/epdf
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). (en)
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 (en)
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 (en)
skos:notation	RIV/00216224:14740/14:00079336!RIV15-MSM-14740___
http://linked.open...avai/riv/aktivita	I P S
http://linked.open...avai/riv/aktivity	I, P(ED1.1.00/02.0068), S
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Grodecká, Lucie Freiberger, Tomáš
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Středoevropský technologický institut
http://linked.open...dnocenehoVysledku	33091
http://linked.open...ai/riv/idVysledku	RIV/00216224:14740/14:00079336
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	neonatal Marfan syndrome; FBN1; fibrillin-1; splicing; splicing mutation (en)
http://linked.open.../riv/klicoveSlovo	splicing FBN1 fibrillin-1 neonatal Marfan syndrome splicing mutation
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[549BBFE71F2D]
http://linked.open...i/riv/nazevZdroje	AMERICAN JOURNAL OF MEDICAL GENETICS PART A
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (xsd:int)
http://linked.open...vavai/riv/projekt	Central european institute of technology
http://linked.open...UplatneniVysledku	2014
http://linked.open...v/svazekPeriodika	164
http://linked.open...iv/tvurceVysledku	Freiberger, Tomáš Honzík, Tomáš Zeman, J. Dvořáková, M. Šípek, A. Grodecká, Lucie Baxová, A. Cibulková, P. Magner, Michal Mazurová, Svatava
http://linked.open...ain/vavai/riv/wos	000335926600028
issn	1552-4825
number of pages	6 (xsd:int)
http://bibframe.org/vocab/doi	10.1002/ajmg.a.36480
http://localhost/t...ganizacniJednotka	14740

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 24 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software