Actions and consequences: characterization of a deletion in the CFTR gene that encompasses a splice site

Pathology; Paediatrics; Respiratory Medicine
Case Report
10.1102/1470-5206.2012.0009
12
36-39
Actions and consequences: characterization of a deletion in the CFTR gene that encompasses a splice site

We report an interesting complex CFTR gene mutation in a patient with cystic fibrosis. It is an insertion combined with a deletion that spans an exonic splice site, causes a frameshift and could affect splicing. This rare mutation poses a challenge to provide correct nomenclature and to interpret its clinical significance.

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Editor-in-Chief

Frank Cross
Consultant Vascular and General Surgeon
The London Clinic, UK

Editors

Neil Barnes
Consultant Physician
Barts Health NHS Trust, London, UK
Ali Jawad
Professor of Rheumatology
Barts Health NHS Trust, London, UK

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