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

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^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

4 Scopus 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.

Original language	English (US)
Pages (from-to)	155-157
Number of pages	3
Journal	Journal of Perinatology
Volume	35
Issue number	2
DOIs	https://doi.org/10.1038/jp.2014.187
State	Published - Mar 2 2015

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Obstetrics and Gynecology

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10.1038/jp.2014.187

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title = "A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia",

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 = "Geddes, {G. C.} and Dimmock, {D. P.} and Hehir, {D. A.} and Helbling, {D. C.} and E. Kirkpatrick and R. Loomba and J. Southern and M. Waknitz and G. Scharer and Konduri, {G. G.}",

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AU - Geddes, G. C.

AU - Dimmock, D. P.

AU - Hehir, D. A.

AU - Helbling, D. C.

AU - Kirkpatrick, E.

AU - Loomba, R.

AU - Southern, J.

AU - Waknitz, M.

AU - Scharer, G.

AU - Konduri, G. G.

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N2 - 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.

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.

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

Abstract

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