ABCMdb

PMID: 20510657

Jambhekar SK, Carroll JL, Keiles S
Report of two patients with associated conditions in addition to cystic fibrosis.
J Cyst Fibros. 2010 Jul;9(4):269-71. Epub 2010 May 26., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Leu467Pro Results of cystic fibrosis transmembrane conductance regulator DNA analysis showed deltaF508; L467P; and 7T/9T. Login to comment 64 ABCC7 p.Leu467Pro Genetic diagnosis: The results of CFTR DNA showed deltaF508; L467P; 7T/9T. Login to comment 65 ABCC7 p.Leu467Pro ABCC7 p.Gln250Arg Her mother's CFTR DNA showed L467P; Q250R, confirming that the patient's two mutations are on different chromosomes, confirming the diagnosis of cystic fibrosis. Login to comment 68 ABCC7 p.Gln250Arg This suggests that the Q250R, another novel variant which has not been seen in over 25,000 patients tested at Ambry (personal communication), is not disease causing or is associated with mild CF disease that has not yet become symptomatic. Login to comment 97 ABCC7 p.Leu467Pro The novel mutations L467P variant and the 4329delCT variant have not been reported in the literature but appear to be disease causing in our patients based on sweat testing and the presence of pancreatic insufficiency. Login to comment