P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population

J Med Genet. 1998 Feb;35(2):122-5. doi: 10.1136/jmg.35.2.122.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles*
  • Child
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • DNA / analysis
  • Exocrine Pancreatic Insufficiency / physiopathology
  • Female
  • Gene Frequency / genetics*
  • Gene Frequency / physiology
  • Genes, Dominant
  • Genetics, Population*
  • Health Surveys
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Mutation
  • Scotland / epidemiology
  • Sweat / chemistry

Substances

  • DNA