ABCC7 p.Gln250Arg
| Predicted by SNAP2: | A: N (57%), C: N (57%), D: D (63%), E: N (53%), F: D (59%), G: D (53%), H: N (53%), I: D (53%), K: N (93%), L: D (59%), M: N (53%), N: N (78%), P: D (66%), R: N (82%), S: N (57%), T: N (53%), V: N (57%), W: D (66%), Y: D (53%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: D, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, R: N, S: N, T: N, V: N, W: D, Y: N, |
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[hide] Report of two patients with associated conditions ... J Cyst Fibros. 2010 Jul;9(4):269-71. Epub 2010 May 26. 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., [PMID:20510657]
Abstract [show]
PURPOSE: To report two patients with associated conditions in addition to cystic fibrosis. METHODS: We reviewed our database and report two patients with cystic fibrosis who had associated conditions. These patients also had novel disease causing CFTR mutations on full gene sequence analysis. RESULTS: We identified 2 patients with novel disease causing cystic fibrosis transmembrane conductance regulator mutations that we report here. A 12-year-old female with cystic fibrosis, diagnosed at 18months, had normal pulmonary function tests and chest X-ray. Her main cystic fibrosis-related health issue was poor growth. Results of cystic fibrosis transmembrane conductance regulator DNA analysis showed deltaF508; L467P; and 7T/9T. She was later diagnosed with Crohn's disease. An 11-year-old male with Rubinstein-Taybi syndrome, diagnosed with cystic fibrosis at 2years of age, had minimal findings on chest X-ray and pancreatic insufficiency. Results of his cystic fibrosis transmembrane conductance regulator DNA analysis showed deltaF508; 4329delCT; and 7T/9T. CONCLUSION: We report 2 patients with CF who had associated conditions and also had novel disease causing CFTR mutations. Associated conditions may worsen the clinical manifestations of CF and complicate medical management.
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No. Sentence Comment
65 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.
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ABCC7 p.Gln250Arg 20510657:65:36
status: NEW68 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.
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ABCC7 p.Gln250Arg 20510657:68:23
status: NEW