A rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient

Abstract

Cystic fibrosis is a life‐shortening multisystem genetic disease. While readily tested, few tests analyze rare gene mutations prevalent among ethnic minorities. This case of a Hispanic child with a rare CF ‐causing c.233dupT mutation and severe disease emphasizes the need for broad CFTR mutation analyses and genotyping particularly in minority populations.