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A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia. J Perinatol 2015 Feb;35(2):155-7

Date

01/30/2015

Pubmed ID

25627281

DOI

10.1038/jp.2014.187

Scopus ID

2-s2.0-84921812234 (requires institutional sign-in at Scopus site)   5 Citations

Abstract

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.

Author List

Geddes GC, Dimmock DP, Hehir DA, Helbling DC, Kirkpatrick E, Loomba R, Southern J, Waknitz M, Scharer G, Konduri GG

Authors

Edward C. Kirkpatrick DO Professor in the Pediatrics department at Medical College of Wisconsin
Girija Ganesh Konduri MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Coloboma
Diagnosis
Fatal Outcome
Female
Forkhead Transcription Factors
Humans
Hyperplasia
Hypertension, Pulmonary
Infant, Newborn
Iris
Mutation
Persistent Fetal Circulation Syndrome
Pulmonary Alveoli
Respiration, Artificial
Respiratory Insufficiency