title: Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).
abstract: Twenty-nine subjects (17 families) with cystic fibrosis belonging to the same Bedouin tribe were screened for cystic fibrosis transmembrane regulator gene mutations (CFTR). Homozygous I1234V mutation in exon 19 was identified in all families with a relatively high rate of consanguinity (96.6 per cent). The homozygous I1234V mutation tended to present with a variable degree of pulmonary disease, pancreatic insufficiency and electrolyte imbalance. Homozygous I1234V was found to be a common mutation in the studied Bedouin tribe in Qatar.
authors.affiliation: Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
authors.forename: A
authors.initials: A
authors.lastname: Abdul Wahab
authors.forename: G
authors.initials: G
authors.lastname: Al Thani
authors.forename: S T
authors.initials: ST
authors.lastname: Dawod
authors.forename: M
authors.initials: M
authors.lastname: Kambouris
authors.forename: M
authors.initials: M
authors.lastname: Al Hamed
mesh_terms: D000293:Adolescent; D018912:Arabs / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D005828:Genetics, Population; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D011780:Qatar