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.
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Authors | Jenny H Lin, Joseph M Collaco, Shruti M Paranjape |
Journal | Pediatric pulmonology
(Pediatr Pulmonol)
Vol. 49
Issue 3
Pg. E40-1
(Mar 2014)
ISSN: 1099-0496 [Electronic] United States |
PMID | 23401342
(Publication Type: Case Reports, Journal Article)
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Copyright | © 2013 Wiley Periodicals, Inc. |
Chemical References |
- CFTR protein, human
- Codon, Nonsense
- Cystic Fibrosis Transmembrane Conductance Regulator
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Topics |
- Adolescent
- Codon, Nonsense
(genetics)
- Cystic Fibrosis
(ethnology, genetics)
- Cystic Fibrosis Transmembrane Conductance Regulator
(genetics)
- Exons
(genetics)
- Frameshift Mutation
(genetics)
- Hispanic or Latino
(genetics)
- Humans
- Male
- Sequence Analysis, DNA
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