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.
authors: 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.
authors: G C
authors: GC
authors: Geddes
authors: 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.
authors: D P
authors: DP
authors: Dimmock
authors: Department of Pediatrics and Children's Research Institute of Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA.
authors: D A
authors: DA
authors: Hehir
authors: Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.
authors: D C
authors: DC
authors: Helbling
authors: Department of Pediatrics and Children's Research Institute of Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA.
authors: E
authors: E
authors: Kirkpatrick
authors: Department of Pediatrics and Children's Research Institute of Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA.
authors: R
authors: R
authors: Loomba
authors: Department of Pathology, Medical College of Wisconsin, Milwaukee, WI, USA.
authors: J
authors: J
authors: Southern
authors: Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.
authors: M
authors: M
authors: Waknitz
authors: 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.
authors: G
authors: G
authors: Scharer
authors: Department of Pediatrics and Children's Research Institute of Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA.
authors: G G
authors: GG
authors: Konduri
mesh_terms: D003103:Coloboma / Q000175:diagnosis*; D003933:Diagnosis; D017809:Fatal Outcome; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D006965:Hyperplasia / Q000151:congenital / Q000175:diagnosis; D006976:Hypertension, Pulmonary / Q000175:diagnosis / Q000209:etiology; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities; D009154:Mutation; D010547:Persistent Fetal Circulation Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D011650:Pulmonary Alveoli / Q000002:abnormalities* / Q000503:physiopathology; D012121:Respiration, Artificial / Q000379:methods; D012131:Respiratory Insufficiency / Q000209:etiology / Q000628:therapy
chemical_list: C098521:FOXF1 protein, human; D051858:Forkhead Transcription Factors
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