Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8.
We report late diagnoses of cystic fibrosis (CF) in two men aged 61 and 65 years. At the time of presentation, both patients had significant pulmonary disease. In each case two CFTR gene mutations were identified, including R117H on a background of a poly T genotype of 7T/9T. Patients with two identified CFTR mutations which include the R117H/7T anomaly should be followed up routinely as they remain susceptible to severe lung disease.
Peckham
D
D
Adult CF Unit, Seacroft Hospital, Leeds, United Kingdom. daniel.peckham@btinternet.com
Conway
S P
SP
Morton
A
A
Jones
A
A
Webb
K
K
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D003937:Diagnosis, Differential; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013147:Spirometry; D014057:Tomography, X-Ray Computed
C505032:CFTR protein, human; D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA