| SEN, Partha, Romana GERYCHOVÁ, Petr JANKŮ, Marta JEŽOVÁ, Iveta VALÁŠKOVÁ, Colby NAVARRO, Iris SILVA, Claire LANGSTON, Stephen WELTY, John BELMONT and Pawel STANKIEWICZ. A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. European Journal of Human Genetics. London: Nature Publishing Group, 2013, vol. 21, No 4, p. 474-477. ISSN 1018-4813. Available from: https://dx.doi.org/10.1038/ejhg.2012.171. |
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@article{1074382,
author = {Sen, Partha and Gerychová, Romana and Janků, Petr and Ježová, Marta and Valášková, Iveta and Navarro, Colby and Silva, Iris and Langston, Claire and Welty, Stephen and Belmont, John and Stankiewicz, Pawel},
article_location = {London},
article_number = {4},
doi = {http://dx.doi.org/10.1038/ejhg.2012.171},
keywords = {ACD/MPV; FOXF1; imprinting; angiogenesis; lung development},
language = {eng},
issn = {1018-4813},
journal = {European Journal of Human Genetics},
note = {ISSN uvedeno dle WoS, dle NK ČR 1018-4813 chybné},
title = {A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human},
volume = {21},
year = {2013}
}
TY - JOUR
ID - 1074382
AU - Sen, Partha - Gerychová, Romana - Janků, Petr - Ježová, Marta - Valášková, Iveta - Navarro, Colby - Silva, Iris - Langston, Claire - Welty, Stephen - Belmont, John - Stankiewicz, Pawel
PY - 2013
TI - A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human
JF - European Journal of Human Genetics
VL - 21
IS - 4
SP - 474-477
EP - 474-477
PB - Nature Publishing Group
SN - 10184813
N1 - ISSN uvedeno dle WoS, dle NK ČR 1018-4813 chybné
KW - ACD/MPV
KW - FOXF1
KW - imprinting
KW - angiogenesis
KW - lung development
N2 - 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.
ER -
SEN, Partha, Romana GERYCHOVÁ, Petr JANKŮ, Marta JEŽOVÁ, Iveta VALÁŠKOVÁ, Colby NAVARRO, Iris SILVA, Claire LANGSTON, Stephen WELTY, John BELMONT and Pawel STANKIEWICZ. A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. \textit{European Journal of Human Genetics}. London: Nature Publishing Group, 2013, vol.~21, No~4, p.~474-477. ISSN~1018-4813. Available from: https://dx.doi.org/10.1038/ejhg.2012.171.
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