Rare CFTR Mutation 1525-1G〉A in a Pakistani Patient

Abstract

Cystic fibrosis (CF) is rare in non-Caucasian populations, and in such populations little is known about the spectrum of mutations and polymorphisms in the cystic fibrosis transmembrane conductance (CFTR) gene. We report the detection of a very rare CFTR mutation 1525-1G〉A in intron 9 in a 5-year-old Pakistani child with typical clinical features of CF. It remains to be seen whether mutation 1525-1G〉A is characteristic of Pakistani ethnicity with CF or associated with severe phenotypic features.