PMID- 25627281
OWN - NLM
STAT- MEDLINE
DCOM- 20151026
LR  - 20181113
IS  - 1476-5543 (Electronic)
IS  - 0743-8346 (Linking)
VI  - 35
IP  - 2
DP  - 2015 Feb
TI  - A novel FOXF1 mutation associated with alveolar capillary dysplasia and
      coexisting colobomas and hemihyperplasia.
PG  - 155-7
LID - 10.1038/jp.2014.187 [doi]
AB  - Alveolar capillary dysplasia (ACD) is a rare and lethal cause of hypoxic
      respiratory failure in the neonate. Here we describe a term neonate with ACD that
      was found with a previously unreported p.Arg86Pro mutation in the FOXF1 (Forkhead
      Box-F1) gene and coexisting congenital anomalies, including colobomas of the iris
      and hemihyperplasia. This unique clinical presentation may indicate a novel, yet 
      unconfirmed disease association for mutations in the FOXF1 gene. Rapid mutation
      analysis in FOXF1 may provide noninvasive early confirmation of ACD in neonates
      with respiratory failure and can aid in clinical decision making.
FAU - Geddes, G C
AU  - Geddes GC
AD  - 1] Department of Pediatrics and Children's Research Institute of Children's
      Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA [2] Human
      and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.
FAU - Dimmock, D P
AU  - Dimmock DP
AD  - 1] Department of Pediatrics and Children's Research Institute of Children's
      Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA [2] Human
      and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.
FAU - Hehir, D A
AU  - Hehir DA
AD  - Department of Pediatrics and Children's Research Institute of Children's Hospital
      of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA.
FAU - Helbling, D C
AU  - Helbling DC
AD  - Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI,
      USA.
FAU - Kirkpatrick, E
AU  - Kirkpatrick E
AD  - Department of Pediatrics and Children's Research Institute of Children's Hospital
      of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA.
FAU - Loomba, R
AU  - Loomba R
AD  - Department of Pediatrics and Children's Research Institute of Children's Hospital
      of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA.
FAU - Southern, J
AU  - Southern J
AD  - Department of Pathology, Medical College of Wisconsin, Milwaukee, WI, USA.
FAU - Waknitz, M
AU  - Waknitz M
AD  - Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI,
      USA.
FAU - Scharer, G
AU  - Scharer G
AD  - 1] Department of Pediatrics and Children's Research Institute of Children's
      Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA [2] Human
      and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.
FAU - Konduri, G G
AU  - Konduri GG
AD  - Department of Pediatrics and Children's Research Institute of Children's Hospital
      of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Perinatol
JT  - Journal of perinatology : official journal of the California Perinatal
      Association
JID - 8501884
RN  - 0 (FOXF1 protein, human)
RN  - 0 (Forkhead Transcription Factors)
RN  - Alveolar capillary dysplasia
RN  - Hemihyperplasia, Isolated
SB  - IM
MH  - Coloboma/*diagnosis
MH  - Diagnosis
MH  - Fatal Outcome
MH  - Female
MH  - Forkhead Transcription Factors/*genetics
MH  - Humans
MH  - *Hyperplasia/congenital/diagnosis
MH  - Hypertension, Pulmonary/diagnosis/etiology
MH  - Infant, Newborn
MH  - Iris/abnormalities
MH  - Mutation
MH  - *Persistent Fetal Circulation
      Syndrome/complications/diagnosis/genetics/physiopathology/therapy
MH  - Pulmonary Alveoli/*abnormalities/physiopathology
MH  - Respiration, Artificial/methods
MH  - Respiratory Insufficiency/etiology/therapy
EDAT- 2015/01/30 06:00
MHDA- 2015/10/27 06:00
CRDT- 2015/01/29 06:00
PHST- 2014/06/28 00:00 [received]
PHST- 2014/09/01 00:00 [revised]
PHST- 2014/09/02 00:00 [accepted]
PHST- 2015/01/29 06:00 [entrez]
PHST- 2015/01/30 06:00 [pubmed]
PHST- 2015/10/27 06:00 [medline]
AID - jp2014187 [pii]
AID - 10.1038/jp.2014.187 [doi]
PST - ppublish
SO  - J Perinatol. 2015 Feb;35(2):155-7. doi: 10.1038/jp.2014.187.