TY - JOUR
T1 - Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants
AU - Salinas, Danieli Barino
AU - Sosnay, Patrick R.
AU - Azen, Colleen
AU - Young, Suzanne
AU - Raraigh, Karen S.
AU - Keens, Thomas G.
AU - Kharrazi, Martin
N1 - Funding Information:
This study received support from the National Institute of Health: USC-CTSI (NIH/NCRR/NCATS; grant no. KL2TR000131 ) and the Division of Pediatric Pulmonology at the Children's Hospital Los Angeles. Dr. Danieli Salinas, Dr. Martin Kharrazi, and Colleen Azen had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: Salinas, Azen, Keens, Sosnay, and Kharrazi. Data acquisition and analysis: Salinas, Azen, Young, and Kharrazi. Interpretation: Salinas, Keens, Azen, Young, Raraigh, Sosnay, and Kharrazi. Drafting of the manuscript: Salinas, Keens, Raraigh, Sosnay, and Kharrazi. Critical revision of the manuscript for important intellectual content: Salinas, Raraigh, Sosnay, and Kharrazi. Obtained funding: Salinas and Keens. Statistical analysis: Azen. All members of the California Cystic Fibrosis Newborn Screening Consortium comprised of providers from 17 CF care centers in the state contributed with patient data.
Publisher Copyright:
© 2015 European Cystic Fibrosis Society..
PY - 2015/11
Y1 - 2015/11
N2 - 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.
AB - 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.
KW - CF-causing variants
KW - CFTR2
KW - Cystic fibrosis
KW - Genotype-phenotype associations
KW - Newborn screening
KW - Non-CF-causing variants
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U2 - 10.1016/j.jcf.2015.03.006
DO - 10.1016/j.jcf.2015.03.006
M3 - Article
C2 - 25824995
AN - SCOPUS:84946412045
SN - 1569-1993
VL - 14
SP - 714
EP - 719
JO - Journal of Cystic Fibrosis
JF - Journal of Cystic Fibrosis
IS - 6
ER -