Rare CFTR mutation 1525-1G>A in a Pakistani patient.
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.
Wahab
Abdul
A
Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar. atiqa@qatar.net.qa
Al Thani
G
G
Dawod
S T
ST
Kambouris
M
M
Al Hamed
M
M
D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D009154:Mutation; D010154:Pakistan; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator