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Updated: Jan 17, 2026

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
Published on: October 9, 2014
A Noncanonical Splice Variant in RTEL1 Responsible for Familial Pulmonary Fibrosis
Alexandre White-Brown1,2, Aren Marshall1, Xueqi Wang1
1Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Abstract:
We report a family with multiple individuals with pulmonary fibrosis of variable severity, age of onset, and clinical characteristics. Initial clinical investigations of the proband identified a splice-region variant of uncertain significance (VUS; NM_032957.4: c.3181 + 3A>C) in RTEL1. Telomere studies showed shortened telomeres (10th percentile). Family studies and functional analyses (mRNA studies and Western blot) were performed to reinterpret the pathogenicity of the variant, allowing for predictive testing of family members and changes to medical management, thus demonstrating the importance of these tools in variant interpretation and the value of predictive testing for at-risk family members.
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