title: Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.
abstract: BACKGROUND
  The Clinical and Functional Translation of CFTR project (CFTR2) classified some cystic fibrosis transmembrane conductance regulator (CFTR) gene variants as non-cystic fibrosis (CF)-causing. To evaluate this, the clinical status of children carrying these mutations was examined.
  
  
  METHODS
  We analyzed CF disease-defining variables over 2-6 years in two groups of California CF screen- positive neonates born from 2007 to 2011: (1) children with two CF-causing variants and (2) children with one CF-causing and one non-CF-causing variant, as defined by CFTR2.
  
  
  RESULTS
  Children carrying non-CF-causing variants had significantly higher birth weight, lower immunoreactive trypsinogen and sweat chloride values, higher first year growth curves, and a lower rate of persistent Pseudomonas aeruginosa colonization compared to children with two CF-causing variants.
  
  
  CONCLUSIONS
  The outcomes in children 2-6 years of age with the L997F, G576A, R1162L, V754M, R668C, R31C, and S1235R variants are consistent with the CFTR2 non-CF-causing classification.
authors.affiliation: Pediatrics-Pediatric Pulmonology, Keck School of Medicine, Children's Hospital Los Angeles, University of Southern California (USC), 4650 Sunset Boulevard, MS 83, Los Angeles, CA 90027, USA. Electronic address: dsalinas@chla.usc.edu.
authors.forename: Danieli Barino
authors.initials: DB
authors.lastname: Salinas
authors.affiliation: McKusick-Nathans Institute of Medical Genetics, Medicine-Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, 5th Floor, 1830 E. Monument St., Baltimore, MD 21287, USA. Electronic address: psosnay@jhmi.edu.
authors.forename: Patrick R
authors.initials: PR
authors.lastname: Sosnay
authors.affiliation: Southern California Clinical and Translational Science Institute, Children's Hospital Los Angeles, University of Southern California, 4650 Sunset Boulevard, MS 142, Los Angeles, CA 90027, USA. Electronic address: cazen@chla.usc.edu.
authors.forename: Colleen
authors.initials: C
authors.lastname: Azen
authors.affiliation: The Sequoia Foundation, 2166 Avenida De La Playa, La Jolla, CA 92037, USA. Electronic address: young.suzy@gmail.com.
authors.forename: Suzanne
authors.initials: S
authors.lastname: Young
authors.affiliation: McKusick-Nathans Institute of Medical Genetics, Johns Hopkins University, Johns Hopkins University School of Medicine, 733 North Broadway, MRB 553, Baltimore, MD 21287, USA. Electronic address: kraraigh@jhmi.edu.
authors.forename: Karen S
authors.initials: KS
authors.lastname: Raraigh
authors.affiliation: Pediatrics-Pediatric Pulmonology, Keck School of Medicine, Children's Hospital Los Angeles, University of Southern California (USC), 4650 Sunset Boulevard, MS 83, Los Angeles, CA 90027, USA. Electronic address: tkeens@chla.usc.edu.
authors.forename: Thomas G
authors.initials: TG
authors.lastname: Keens
authors.affiliation: Environmental Health Investigations Branch, California Department of Public Health, 850 Marina Bay Parkway, P-3, Richmond, CA 94804, USA. Electronic address: marty.kharrazi@cdph.ca.gov.
authors.forename: Martin
authors.initials: M
authors.lastname: Kharrazi
mesh_terms: D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D012189:Retrospective Studies
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: CF-causing variants; CFTR2; Cystic fibrosis; Genotype-phenotype associations; Newborn screening; Non-CF-causing variants
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