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Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Publication ,  Journal Article
Sen, P; Yang, Y; Navarro, C; Silva, I; Szafranski, P; Kolodziejska, KE; Dharmadhikari, AV; Mostafa, H; Kozakewich, H; Kearney, D; Cahill, JB ...
Published in: Hum Mutat
June 2013

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.

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Published In

Hum Mutat

DOI

EISSN

1098-1004

Publication Date

June 2013

Volume

34

Issue

6

Start / End Page

801 / 811

Location

United States

Related Subject Headings

  • Sequence Alignment
  • Protein Interaction Domains and Motifs
  • Persistent Fetal Circulation Syndrome
  • Open Reading Frames
  • Mutation
  • Molecular Sequence Data
  • Male
  • Infant, Newborn
  • Infant
  • Humans
 

Citation

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Sen, P., Yang, Y., Navarro, C., Silva, I., Szafranski, P., Kolodziejska, K. E., … Stankiewicz, P. (2013). Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat, 34(6), 801–811. https://doi.org/10.1002/humu.22313
Sen, Partha, Yaping Yang, Colby Navarro, Iris Silva, Przemyslaw Szafranski, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, et al. “Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.Hum Mutat 34, no. 6 (June 2013): 801–11. https://doi.org/10.1002/humu.22313.
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, et al. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat. 2013 Jun;34(6):801–11.
Sen, Partha, et al. “Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.Hum Mutat, vol. 34, no. 6, June 2013, pp. 801–11. Pubmed, doi:10.1002/humu.22313.
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IFM, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KEM, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat. 2013 Jun;34(6):801–811.
Journal cover image

Published In

Hum Mutat

DOI

EISSN

1098-1004

Publication Date

June 2013

Volume

34

Issue

6

Start / End Page

801 / 811

Location

United States

Related Subject Headings

  • Sequence Alignment
  • Protein Interaction Domains and Motifs
  • Persistent Fetal Circulation Syndrome
  • Open Reading Frames
  • Mutation
  • Molecular Sequence Data
  • Male
  • Infant, Newborn
  • Infant
  • Humans