A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F13%3A00067537" target="_blank" >RIV/00216224:14110/13:00067537 - isvavai.cz</a>

Alternative codes found

RIV/65269705:_____/13:#0002051

Result on the web

<a href="http://dx.doi.org/10.1038/ejhg.2012.171" target="_blank" >http://dx.doi.org/10.1038/ejhg.2012.171</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/ejhg.2012.171" target="_blank" >10.1038/ejhg.2012.171</a>

Result language

angličtina

Original language name

A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

Original language 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.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

European Journal of Human Genetics

ISSN

1018-4813

e-ISSN

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Volume of the periodical

21

Issue of the periodical within the volume

4

Country of publishing house

GB - UNITED KINGDOM

Number of pages

4

Pages from-to

474-477

UT code for WoS article

000317089300023

EID of the result in the Scopus database

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