Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants

Danieli Barino Salinas, Patrick R. Sosnay, Colleen Azen, Suzanne Young, Karen S. Raraigh, Thomas G. Keens, Martin Kharrazi

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)714-719
Number of pages6
JournalJournal of Cystic Fibrosis
Issue number6
StatePublished - Nov 2015


  • CF-causing variants
  • CFTR2
  • Cystic fibrosis
  • Genotype-phenotype associations
  • Newborn screening
  • Non-CF-causing variants

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine


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