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Journal of Tropical Pediatrics 2004 50(2):120-122; doi:10.1093/tropej/50.2.120
© 2004 by Oxford University Press
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Case Report

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

Abdul Wahab1,*, G. Al Thani1, S. T. Dawod1, M. Kambouris2 and M. Al Hamed2

1 Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar 2 Department of DNA Diagnostic Laboratory, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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.

* Correspondence: Dr Atiqa Abdul Wahab, Department of Pediatrics, Hamad Medical Corporation, P.O. Box 3050, Doha, Qatar. Tel. 0974 4392383 or 4392834; Fax 0974 4392204. E-mail <atiqa{at}qatar.net.qa>.


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