title: 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: Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors: Jenny H
authors: JH
authors: Lin
authors: Joseph M
authors: JM
authors: Collaco
authors: Shruti M
authors: SM
authors: Paranjape
mesh_terms: D000293:Adolescent; D018389:Codon, Nonsense / Q000235:genetics; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics*; D006630:Hispanic or Latino / Q000235:genetics*; D006801:Humans; D008297:Male; D017422:Sequence Analysis, DNA
chemical_list: C505032:CFTR protein, human; D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: Hispanic; cystic fibrosis; frameshift mutation
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