Advanced

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E.; Dharmadhikari, Avinash V.; Mostafa, Hasnaa; Kozakewich, Harry and Kearney, Debra, et al. (2013) In Human Mutation 34(6). p.801-811
Abstract
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report... (More)
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis. (Less)
Please use this url to cite or link to this publication:
author
, et al. (More)
(Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
lung, development, angiogenesis, ACD/MPV, FOXF1, imprinting
in
Human Mutation
volume
34
issue
6
pages
801 - 811
publisher
John Wiley & Sons
external identifiers
  • wos:000319278500001
  • scopus:84878146978
ISSN
1059-7794
DOI
10.1002/humu.22313
language
English
LU publication?
yes
id
9c8c845f-c972-4886-9b79-ff3bb1043fe3 (old id 3931483)
date added to LUP
2013-08-01 07:39:57
date last changed
2019-10-13 03:01:38
@article{9c8c845f-c972-4886-9b79-ff3bb1043fe3,
  abstract     = {Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.},
  author       = {Sen, Partha and Yang, Yaping and Navarro, Colby and Silva, Iris and Szafranski, Przemyslaw and Kolodziejska, Katarzyna E. and Dharmadhikari, Avinash V. and Mostafa, Hasnaa and Kozakewich, Harry and Kearney, Debra and Cahill, John B. and Whitt, Merrissa and Bilic, Masha and Margraf, Linda and Charles, Adrian and Goldblatt, Jack and Gibson, Kathleen and Lantz, Patrick E. and Garvin, A. Julian and Petty, John and Kiblawi, Zeina and Zuppan, Craig and McConkie-Rosell, Allyn and McDonald, Marie T. and Peterson-Carmichael, Stacey L. and Gaede, Jane T. and Shivanna, Binoy and Schady, Deborah and Friedlich, Philippe S. and Hays, Stephen R. and Palafoll, Irene Valenzuela and Siebers-Renelt, Ulrike and Bohring, Axel and Finn, Laura S. and Siebert, Joseph R. and Galambos, Csaba and Nguyen, Lananh and Riley, Melissa and Chassaing, Nicolas and Vigouroux, Adeline and Rocha, Gustavo and Fernandes, Susana and Brumbaugh, Jane and Roberts, Kari and Luk, Ho-ming and Lo, Ivan F. M. and Lam, Stephen and Gerychova, Romana and Jezova, Marta and Valaskova, Iveta and Fellmann, Florence and Afshar, Katayoun and Giannoni, Eric and Muhlethaler, Vincent and Liang, Jinlong and Beckmann, Jacques S. and Lioy, Janet and Deshmukh, Hitesh and Srinivasan, Lakshmi and Swarr, Daniel T. and Sloman, Melissa and Shaw-Smith, Charles and van Loon, Rosa Laura and Hagman, Cecilia and Sznajer, Yves and Barrea, Catherine and Galant, Christine and Detaille, Thierry and Wambach, Jennifer A. and Cole, F. Sessions and Hamvas, Aaron and Prince, Lawrence S. and Diderich, Karin E. M. and Brooks, Alice S. and Verdijk, Robert M. and Ravindranathan, Hari and Sugo, Ella and Mowat, David and Baker, Michael L. and Langston, Claire and Welty, Stephen and Stankiewicz, Pawel},
  issn         = {1059-7794},
  keyword      = {lung,development,angiogenesis,ACD/MPV,FOXF1,imprinting},
  language     = {eng},
  number       = {6},
  pages        = {801--811},
  publisher    = {John Wiley & Sons},
  series       = {Human Mutation},
  title        = {Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain},
  url          = {http://dx.doi.org/10.1002/humu.22313},
  volume       = {34},
  year         = {2013},
}