Abstract
We describe the presentation of a Hispanic adolescent with chronic respiratory symptoms and poor growth that led to a diagnosis of cystic fibrosis (CF) based on an indeterminate sweat chloride result and DNA sequence analysis that revealed a single new frameshift mutation, Nt3878insATCAG, which results in a premature stop codon in exon 20 of the CFTR gene. This case, highlighted by the identification of a deleterious, disease-causing mutation, illustrates the importance of maintaining both a high clinical suspicion for CF and low threshold for obtaining genetic testing in a non-Caucasian Hispanic adolescent with a characteristic clinical presentation.
Original language | English (US) |
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Pages (from-to) | E40-E41 |
Journal | Pediatric pulmonology |
Volume | 49 |
Issue number | 3 |
DOIs | |
State | Published - Mar 2014 |
Keywords
- Hispanic
- cystic fibrosis
- frameshift mutation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Pulmonary and Respiratory Medicine