SARAHSARAH253
New member
Okay, when we first got our sons mutations I noticed on one of them had this note attatched it.
Result: Known Mutation(s) 1898+1G>A, 258delT
The Results of this test indicated the heterozgous of known deleterious mutaons would be expected to cause cystic fibrosis if these mutations are on different chromosomes, although the severity of the symptoms cannot be predicted. Family studies would be necessary to determine if these mutations are on a different chromsome. Since this patient has had two mutatioins indentified by the full gene analysis, the deletion/duplication portion of the CF Amplified test was not performed. If aminoglycoside use is aticipated in the care of this patient, you may wish to consider MT RNR1 Full Gene Analysis. MT RNR1 mutations are associated with an increased risk of aminoglycoside related hearing loss. If aminoglycosided use is anticipated in the care of this patient you may wish to consider MT RNR1 Full Gene Anyalysis.
Okay, so I read that early on and asked the first CF doc and gave me a simply answer "Yes It can it happen has it happened to one of my patients NO". So, I let it go and didn't give much thought about it until yester day at CF Clinic. I was talking to another CF doc about setting up testing for the baby I'm pregnant with. That meant he had to go back and look at our sons mutations. He then told me I should keep the hearing loss factor later on down the road when they start IV treatments.
My question is are than any people on this site with this 258delT mutation? If so have you had to change treatments because of this threat of hearing loss? Second if you took the time and read this, do you think I should push for MT RNR1 Full Gene Analysis? I'm sorry I should get this by now, but I don't. What does that even mean? I figure that since we had the two mutations were done needing more Gene Analysis? Thanks for your time if you think you can help me.
Love,
Sarah
Result: Known Mutation(s) 1898+1G>A, 258delT
The Results of this test indicated the heterozgous of known deleterious mutaons would be expected to cause cystic fibrosis if these mutations are on different chromosomes, although the severity of the symptoms cannot be predicted. Family studies would be necessary to determine if these mutations are on a different chromsome. Since this patient has had two mutatioins indentified by the full gene analysis, the deletion/duplication portion of the CF Amplified test was not performed. If aminoglycoside use is aticipated in the care of this patient, you may wish to consider MT RNR1 Full Gene Analysis. MT RNR1 mutations are associated with an increased risk of aminoglycoside related hearing loss. If aminoglycosided use is anticipated in the care of this patient you may wish to consider MT RNR1 Full Gene Anyalysis.
Okay, so I read that early on and asked the first CF doc and gave me a simply answer "Yes It can it happen has it happened to one of my patients NO". So, I let it go and didn't give much thought about it until yester day at CF Clinic. I was talking to another CF doc about setting up testing for the baby I'm pregnant with. That meant he had to go back and look at our sons mutations. He then told me I should keep the hearing loss factor later on down the road when they start IV treatments.
My question is are than any people on this site with this 258delT mutation? If so have you had to change treatments because of this threat of hearing loss? Second if you took the time and read this, do you think I should push for MT RNR1 Full Gene Analysis? I'm sorry I should get this by now, but I don't. What does that even mean? I figure that since we had the two mutations were done needing more Gene Analysis? Thanks for your time if you think you can help me.
Love,
Sarah