View Full Version : Test Result

06-05-2013, 11:24 PM
I received a full sequence result for my 16 month old son today. The result reads he is heterozygous for;c.1521_1523delCTT (p.Phe508del), andc.1584G>A(p.GLu528Glu) mutations.They also found sequence variants of limited or no known significance;c.744-31TTGA[5]+[6]c.869+11C>Tc.1210-12T[7]+[9] (PolyT 7T/9T)c.1766+152T>Ac.2562T>Gc.2909-92G>Ac.3469-65C>Ac.3874-200G>AThe genetics speacialist advised this did not show a CF diagnosis and we would have to wait and see if his symtoms persist. He has had ongoing symptoms of diareah, daily cough, constant sinus issues, too many URI to count (11 courses of antibiotics in 12 mths), waitng for surgery to remove his adenoids. Because he has constantly passed a sweat test and is putting on weight they don't think it can be CF. My 6 old son is currently seeing a GI for weight loss as he has had poor weight gain and even recently lost weight. He dropped from 75 percentile to 10 percentile (and eats every minute of the day), floating stools, and has had a constant cough since he was three. He always has low iron levels and has had one boute of pnemonia. He passed his sweat test at 28 so he has had no genetics testing as yet. I was hopeing someone could help me with the result as my gut keep telling me its CF. I was aware of our family history of CF as my neice has DDF508 and my eldest daughter is a carrier but has absolutely no symptoms. My other daughter is also a picture of health. Can anybody PLEASE help?Concerned mum

06-06-2013, 05:25 PM
Have they tested your kids' pancreas funtions? It is possible to have CF with a neg. sweat test result. (My kids are "pancreatic sufficient".) Your baby sounds too sick to just leave it at that.

I'm all for second opinions. Can you get to a proper CFF accredited CF center? "Heterozygous" doesn't sound good to me. My kids are also heterozygous for CF. I tried looking on these sites, but wasn't very successful.

Good luck and hope you get the right answers to help your baby

I found this under the FAQ of the crtr2 site
"4. Do all CFTR mutations cause CF?http://www.cftr2.org/images/spacer.gif No, not all mutations of the CFTR gene cause CF. Most of the mutations included in the CFTR2 database cause CF, but some of the mutations included in the database do not cause CF. (These mutations are called "non CF-causing mutations," meaning that they do not cause disease.) Typically, the term "mutation" refers to any genetic difference, not just the ones that cause disease. Sometimes the terms "polymorphism" or "neutral variant" are used for mutations that do not cause disease. Only patients who have been diagnosed clinically with CF are included in the CFTR2 database. The cause of CF in some of these patients is not clear.

5. How can you determine whether a particular CFTR mutation causes CF?http://www.cftr2.org/images/spacer.gif To determine whether a particular mutation causes CF, we can use 3 different criteria:

a. Clinical Characteristics of patients who have one copy of the mutation in question and one copy of another mutation that is known to cause CF. In these patients, we have analyzed the sweat chloride, lung function, pancreatic function and sputum microbiology (all major clinical characteristics abnormal in CF patients) to determine whether individuals with the mutation in question have clear evidence of CF. If the evaluation of the clinical criteria is not sufficient to determine whether or not a particular mutation causes CF, we then review the functional testing and/or prediction algorithms to help determine whether the mutation causes CF.
b. Functional testing. By looking at cells that have had the mutation in question inserted into them, we can characterize the degree of dysfunction caused by the mutation. We have reviewed previously published experiments, and in cooperation with Vertex Pharmaceuticals (Cambridge, MA, USA), are conducting experiments to assess the disease liability of a broad range of mutations.
c. Mutation prediction algorithms. We also can use mathematical models to predict whether or not a given mutation will cause disease. "

06-06-2013, 05:51 PM
Have the doctors ever cultured their sputum? It might be worth pushing for that. It can be very revealing.

06-06-2013, 11:00 PM
Thankyou so much for that information. The mutation is probably better known as 1716G/A and I have read alot about it being found in patients with ferility, pancreatic and resp issues. I am hoping they will try him on enzymes to see if it improves him. Thanks again.

06-06-2013, 11:02 PM
He only had a sputum culture nearly 12mths ago when he cultured haemophilus influenzae.