title: A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.
abstract: Mutations of the Surfactant Protein C (SPC) gene (SFTPC) have been associated with childhood interstitial lung disease (chILD) with variable age of onset, severity of lung disease, and outcomes. We report a novel mutation in SFTPC [c.435G->A, p.(Gln145)] that was associated with onset of symptoms in early infancy, progressive respiratory failure with need for prolonged mechanical ventilatory support, and eventual lung transplant at 1 year of age. While the mutation was not predicted to alter the amino acid sequence of the SP-C precursor protein, analysis of SP-C transcripts demonstrated skipping of exon 4. Because of limited data about the outcomes of infants with SFTPC mutations, we conducted a systematic review of all the SFTPC mutations reported in the literature in order to define their presenting features, clinical and radiologic features, and outcomes. Further advances in our understanding of chILD and creation of an international registry will help to track these patients and their outcomes. Pediatr Pulmonol. 2017;52:57-68. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan.
authors.forename: Melissa Kaori Silva
authors.initials: MK
authors.lastname: Litao
authors.affiliation: Section of Pulmonary Medicine, Lung Transplant Program, Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio.
authors.forename: Don
authors.initials: D
authors.lastname: Hayes
authors.affiliation: Division of Pediatric Critical Care, Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan.
authors.forename: Saurabh
authors.initials: S
authors.lastname: Chiwane
authors.affiliation: Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland.
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Nogee
authors.affiliation: Division of Pulmonary Medicine Allergy and Immunology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Kurland
authors.affiliation: Division of Pulmonology, Allergy/Immunology, Cystic Fibrosis and Sleep (PACS), Department of Pediatrics, Children's Healthcare of Atlanta, Atlanta, Georgia, 30322.
authors.forename: Lokesh
authors.initials: L
authors.lastname: Guglani
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D017563:Lung Diseases, Interstitial / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000235:genetics*
chemical_list: D037721:Pulmonary Surfactant-Associated Protein C
keywords: chest; infant; interstitial; lung; mutation; respiratory failure; surfactant; transplant