Cystic fibrosis in a Hispanic adolescent

Research output: Contribution to journalArticlepeer-review

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 languageEnglish (US)
Pages (from-to)E40-E41
JournalPediatric pulmonology
Volume49
Issue number3
DOIs
StatePublished - Mar 2014

Keywords

  • Hispanic
  • cystic fibrosis
  • frameshift mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

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