A rare CFTR mutation associated with severe disease progression in a 10-year-old Hispanic patient.
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.
Indiana University School of Medicine Indianapolis Indiana USA.
Katherine
K
Soe
Department of Pediatrics and Adolescent Medicine Western Michigan University Homer Stryker School of Medicine Kalamazoo Michigan USA.
M Myrtha
0000-0002-9984-4750
MM
Gregoire-Bottex
Cystic fibrosis; cystic fibrosis genetic testing