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Statements

Subject Item
n2:RIV%2F65269705%3A_____%2F13%3A%230002051%21RIV14-MZ0-65269705
rdf:type
skos:Concept n9:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1038/ejhg.2012.171
dcterms:description
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare developmental lung disorder that is uniformly lethal. Affected infants die within the first few weeks of their life despite aggressive treatment, although a few cases of late manifestation and longer survival have been reported. We have shown previously that mutations and deletions in FOXF1 are a cause of this disorder. Although most of the cases of ACD/MPV are sporadic, there have been infrequent reports of familial cases. We present a family with five out of six children affected with ACD/MPV. DNA analysis identified a missense mutation (c.416G4T; p.Arg139Leu) in the FOXF1 gene that segregated in the three affected siblings tested. The same variant is also present as a de novo mutation in the mother and arose on her paternally derived chromosome 16. The two tested affected siblings share the same chromosome 16 haplotype inherited from their maternal grandfather. Their single healthy sibling has a different chromosome 16 haplotype inherited from the maternal grandmother. The results are consistent with paternal imprinting of FOXF1 in human. Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare developmental lung disorder that is uniformly lethal. Affected infants die within the first few weeks of their life despite aggressive treatment, although a few cases of late manifestation and longer survival have been reported. We have shown previously that mutations and deletions in FOXF1 are a cause of this disorder. Although most of the cases of ACD/MPV are sporadic, there have been infrequent reports of familial cases. We present a family with five out of six children affected with ACD/MPV. DNA analysis identified a missense mutation (c.416G4T; p.Arg139Leu) in the FOXF1 gene that segregated in the three affected siblings tested. The same variant is also present as a de novo mutation in the mother and arose on her paternally derived chromosome 16. The two tested affected siblings share the same chromosome 16 haplotype inherited from their maternal grandfather. Their single healthy sibling has a different chromosome 16 haplotype inherited from the maternal grandmother. The results are consistent with paternal imprinting of FOXF1 in human.
dcterms:title
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human
skos:prefLabel
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human
skos:notation
RIV/65269705:_____/13:#0002051!RIV14-MZ0-65269705
n9:predkladatel
n10:ico%3A65269705
n3:aktivita
n5:I n5:V
n3:aktivity
I, V
n3:cisloPeriodika
4
n3:dodaniDat
n13:2014
n3:domaciTvurceVysledku
n8:4250168 n8:8531110 n8:5098327 n8:9711929
n3:druhVysledku
n4:J
n3:duvernostUdaju
n18:S
n3:entitaPredkladatele
n15:predkladatel
n3:idSjednocenehoVysledku
58600
n3:idVysledku
RIV/65269705:_____/13:#0002051
n3:jazykVysledku
n12:eng
n3:klicovaSlova
ACD/MPV; FOXF1; imprinting; angiogenesis; lung development
n3:klicoveSlovo
n14:FOXF1 n14:imprinting n14:lung%20development n14:angiogenesis n14:ACD%2FMPV
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[D1FB695121FB]
n3:nazevZdroje
European journal of human genetics
n3:obor
n19:EB
n3:pocetDomacichTvurcuVysledku
4
n3:pocetTvurcuVysledku
11
n3:rokUplatneniVysledku
n13:2013
n3:svazekPeriodika
21
n3:tvurceVysledku
Janků, Petr Valášková, Iveta Gerychová, Romana Ježová, Marta
n3:wos
000317089300023
s:issn
1018-4813
s:numberOfPages
4
n16:doi
10.1038/ejhg.2012.171