title: Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
abstract: Six new mutations have been identified in the CFTR gene. These mutations, representing three different categories--missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)--are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients. All these mutations are probably rare in the population, as no additional examples were found for any of them in a cohort of 545 CF patients. Our study also revealed a benign sequence variation (3499 + 45T-->C) in intron 17b.
authors.affiliation: Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Zielenski
authors.forename: D
authors.initials: D
authors.lastname: Markiewicz
authors.forename: H S
authors.initials: HS
authors.lastname: Chen
authors.forename: K
authors.initials: K
authors.lastname: Schappert
authors.forename: A
authors.initials: A
authors.lastname: Seller
authors.forename: P
authors.initials: P
authors.lastname: Durie
authors.forename: M
authors.initials: M
authors.lastname: Corey
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D004277:DNA, Single-Stranded / Q000737:chemistry / Q000235:genetics; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007438:Introns; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009690:Nucleic Acid Conformation; D011110:Polymorphism, Genetic; D017384:Sequence Deletion
chemical_list: C505032:CFTR protein, human; D004277:DNA, Single-Stranded; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator