Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: An extremely mild form of CFTR dysfunction

Donatello Salvatore, Rossella Tomaiuolo, Borghina Vanacore, Ausilia Elce, Giuseppe Castaldo, Francesco Salvatore

Research output: Contribution to journalArticle

Abstract

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been shown to cause typical cystic fibrosis (CF) and several milder phenotypes. We report on two asymptomatic sisters who had isolated increased sweat chloride concentrations, and in whom systematic scanning of the whole coding region of the CFTR gene revealed the F508del/S1455X genotype.

Original languageEnglish
Pages (from-to)207-208
Number of pages2
JournalAmerican Journal of Medical Genetics
Volume133 A
Issue number2
DOIs
Publication statusPublished - Mar 1 2005

Keywords

  • Cystic fibrosis
  • Genotype-phenotype correlation
  • Mild phenotype

ASJC Scopus subject areas

  • Genetics(clinical)

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