Elsevier

Journal of Cystic Fibrosis

Volume 14, Issue 6, November 2015, Pages 714-719
Journal of Cystic Fibrosis

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

https://doi.org/10.1016/j.jcf.2015.03.006Get rights and content
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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.

Keywords

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

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