P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.
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.
Gilfillan
A
A
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
Warner
J P
JP
Kirk
J M
JM
Marshall
T
T
Greening
A
A
Ho
L P
LP
Hargreave
T
T
Stack
B
B
McIntyre
D
D
Davidson
R
R
Dean
J C
JC
Middleton
W
W
Brock
D J
DJ
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D004247:DNA / Q000032:analysis; D010188:Exocrine Pancreatic Insufficiency / Q000503:physiopathology; D005260:Female; D005787:Gene Frequency / Q000235:genetics* / Q000502:physiology; D005799:Genes, Dominant; D005828:Genetics, Population; D006306:Health Surveys; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D012606:Scotland / Q000453:epidemiology; D013542:Sweat / Q000737:chemistry
D004247:DNA