Danieli Barino Salinas1, Patrick R Sosnay2, Colleen Azen3, Suzanne Young4, Karen S Raraigh5, Thomas G Keens6, Martin Kharrazi7. 1. 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. 2. 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. 3. 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. 4. The Sequoia Foundation, 2166 Avenida De La Playa, La Jolla, CA 92037, USA. Electronic address: young.suzy@gmail.com. 5. 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. 6. 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. 7. 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.
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.
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.
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