Cystic fibrosis in a Hispanic adolescent.

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.

• 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)
• Copyright: © 2013 Wiley Periodicals, Inc.

Chemical References

• CFTR protein, human
• Codon, Nonsense
• Cystic Fibrosis Transmembrane Conductance Regulator

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