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Only three mutant cystic fibrosis (CF) alleles have to date been established as conferring a dominant mild effect on affected subjects who are compound heterozygotes. We now add a fourth, P67L, which occurs on about 1.4% of Scottish CF chromosomes. Among 13 patients (12 unrelated) with this allele, the average age at diagnosis was 22.5 +/- 11.3 years. None of the cases had consistently raised sweat chloride concentrations, the average value being 57 +/- 9 mmol/l; 77% of the patients were pancreatic sufficient. When compared to three other established mild CF alleles, R117H, A455E, and 3849 + 10kb C-T, a compound heterozygote for P67L has minimal disease and clinical suspicions are unlikely to be confirmed other than by DNA typing.

Original publication

DOI

10.1136/jmg.35.2.122

Type

Journal article

Journal

J Med Genet

Publication Date

02/1998

Volume

35

Pages

122 - 125

Keywords

Adolescent, Adult, Alleles, Child, Cystic Fibrosis, DNA, Exocrine Pancreatic Insufficiency, Female, Gene Frequency, Genes, Dominant, Genetics, Population, Health Surveys, Heterozygote, Humans, Infant, Male, Mutation, Scotland, Sweat