Anyone know what this means

[worriedgrandma]

This is about my granddaughters 2nd mutation which they tell us is quite rare. It's c.2657+2_2657+3insA (legacy name 2789+2insA). About the only info I can find is that the consequence is "mRNA splicing defect? (CAVD)". Any insight as to what this means??

 

[worriedgrandma]

This is about my granddaughters 2nd mutation which they tell us is quite rare. It's c.2657+2_2657+3insA (legacy name 2789+2insA). About the only info I can find is that the consequence is "mRNA splicing defect? (CAVD)". Any insight as to what this means??

 

[worriedgrandma]

This is about my granddaughters 2nd mutation which they tell us is quite rare. It's c.2657+2_2657+3insA (legacy name 2789+2insA). About the only info I can find is that the consequence is "mRNA splicing defect? (CAVD)". Any insight as to what this means??

 

[Mommafirst]

I don't know what all of it means. The CAVD usually refers to Congenital Absence of the Vas Deferens. It won't matter for your granddaughter, because she is a girl, but for boys, this usually means they will lack the vas Deferens (or the tubes that move sperm from the testicles to the penis). Most males with CF are unable to have babies without having the sperm taken out for them, because their semen doesn't contain the sperm.

I'm not sure what a splicing defect means, but maybe someone else will.

 

[Mommafirst]

I don't know what all of it means. The CAVD usually refers to Congenital Absence of the Vas Deferens. It won't matter for your granddaughter, because she is a girl, but for boys, this usually means they will lack the vas Deferens (or the tubes that move sperm from the testicles to the penis). Most males with CF are unable to have babies without having the sperm taken out for them, because their semen doesn't contain the sperm.

I'm not sure what a splicing defect means, but maybe someone else will.

 

[Mommafirst]

I don't know what all of it means. The CAVD usually refers to Congenital Absence of the Vas Deferens. It won't matter for your granddaughter, because she is a girl, but for boys, this usually means they will lack the vas Deferens (or the tubes that move sperm from the testicles to the penis). Most males with CF are unable to have babies without having the sperm taken out for them, because their semen doesn't contain the sperm.
<br />
<br />I'm not sure what a splicing defect means, but maybe someone else will.

 

[ymikhale]

My dd has a splicing mutation too, but not the one you are talking about. I recently took her to see a Dr who is an expert on these and he explained to me that splicing defect has to do with assembly of introns and exons within the gene that is not carried out as it should.

In the case of her mutation there is a possibility that she has a partially working CFTR, but don't know if it applies to other splicing mutations as well.

Hope it helps.

 

[ymikhale]

My dd has a splicing mutation too, but not the one you are talking about. I recently took her to see a Dr who is an expert on these and he explained to me that splicing defect has to do with assembly of introns and exons within the gene that is not carried out as it should.

In the case of her mutation there is a possibility that she has a partially working CFTR, but don't know if it applies to other splicing mutations as well.

Hope it helps.

 

[ymikhale]

My dd has a splicing mutation too, but not the one you are talking about. I recently took her to see a Dr who is an expert on these and he explained to me that splicing defect has to do with assembly of introns and exons within the gene that is not carried out as it should.
<br />
<br />In the case of her mutation there is a possibility that she has a partially working CFTR, but don't know if it applies to other splicing mutations as well.
<br />
<br />Hope it helps.

 

[worriedgrandma]

ymikhale, I hope you're right about the partially working CFTR. It says mRNA splicing defect? (with the question mark after it)(CAVD) in the region of intron 14b. I wonder if the question mark means that they're not even sure if it has a defect. Mommafirst, thank you for your answer too.

 

[worriedgrandma]

ymikhale, I hope you're right about the partially working CFTR. It says mRNA splicing defect? (with the question mark after it)(CAVD) in the region of intron 14b. I wonder if the question mark means that they're not even sure if it has a defect. Mommafirst, thank you for your answer too.

 

[worriedgrandma]

ymikhale, I hope you're right about the partially working CFTR. It says mRNA splicing defect? (with the question mark after it)(CAVD) in the region of intron 14b. I wonder if the question mark means that they're not even sure if it has a defect. Mommafirst, thank you for your answer too.