Open AccessA rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient
Author(s) -
Soe Katherine,
GregoireBottex M. Myrtha
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.764
Subject(s) - medicine , mutation , rare disease , disease , pediatrics , genetics , gene , biology
Key Clinical Message 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.