A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia

G C Geddes; D P Dimmock; D A Hehir; D C Helbling; E Kirkpatrick; R Loomba; J Southern; M Waknitz; G Scharer; G G Konduri

doi:10.1038/jp.2014.187

A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia

J Perinatol. 2015 Feb;35(2):155-7. doi: 10.1038/jp.2014.187.

Authors

G C Geddes¹, D P Dimmock¹, D A Hehir², D C Helbling³, E Kirkpatrick², R Loomba², J Southern⁴, M Waknitz³, G Scharer¹, G G Konduri²

Affiliations

¹ 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.
² Department of Pediatrics and Children's Research Institute of Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA.
³ Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.
⁴ Department of Pathology, Medical College of Wisconsin, Milwaukee, WI, USA.

PMID: 25627281
DOI: 10.1038/jp.2014.187

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.

Publication types

Case Reports

MeSH terms

Coloboma / diagnosis*
Diagnosis
Fatal Outcome
Female
Forkhead Transcription Factors / genetics*
Humans
Hyperplasia* / congenital
Hyperplasia* / diagnosis
Hypertension, Pulmonary / diagnosis
Hypertension, Pulmonary / etiology
Infant, Newborn
Iris / abnormalities
Mutation
Persistent Fetal Circulation Syndrome* / complications
Persistent Fetal Circulation Syndrome* / diagnosis
Persistent Fetal Circulation Syndrome* / genetics
Persistent Fetal Circulation Syndrome* / physiopathology
Persistent Fetal Circulation Syndrome* / therapy
Pulmonary Alveoli / abnormalities*
Pulmonary Alveoli / physiopathology
Respiration, Artificial / methods
Respiratory Insufficiency / etiology
Respiratory Insufficiency / therapy

Substances

FOXF1 protein, human
Forkhead Transcription Factors

Supplementary concepts

Alveolar capillary dysplasia
Hemihyperplasia, Isolated