P67L

Nothing exciting here. I am making a folder to keep all my info on my mutations and work we are doing.

Journal of Medical Genetics, 1998, Vol 35, 122-125 --------------------------------------------------------------------
ARTICLES P67L:

a cystic fibrosis allele with mild effects found at high frequency in the Scottish population A Gilfillan, JP Warner, JM Kirk, T Marshall, A Greening, LP Ho, T Hargreave, B Stack, D McIntyre, R Davidson, JC Dean, W Middleton and DJ Brock Human Genetics Unit, University of Edinburgh, Western General Hospital, UK. 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.