C9ORF72 mutant gene

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Duker52

Distinguished member
Joined
May 22, 2016
Messages
119
Reason
PALS
Diagnosis
04/2016
Country
US
State
Virginia
City
Alexandria
I have FALS caused by the C9ORF72 mutant gene. I know as a carrier I had a 50/50 chance of passing the gene down to any offspring. My sister has been tested and is awaiting the results. If her test comes back negative, does that mean she can not pass down the mutant C9 gene since hers is not mutant? Thoughts?

Thanks
Bill
 
That is correct. If your sister is negative her children have no more risk than the general population. C9 is highly penetrant- meaning if you have the mutation you are very very likely to get a C9 disease but not 100 percent which is why you occasionally hear my grandparent had and I do but my parent did not. If there is documented c9 ( or other mutation) that supposedly unaffected parent would be termed an obligate carrier and would test positive for the mutation.

If your sister is negative it stops there for her branch of the family. Hope this is so
 
I truly hope your sister tests negative. As Nikki says, if she does not have the gene, she can't pass it on further.
 
My sister just got her test results and she is negative!! We are both so relieved.

Bill
 
I am so happy to hear it. Thank you for sharing the good news!
 
I am so happy that you shared the great news.
 
Thank you for letting us know, this is indeed wonderful news for her xx
 
Thanks for sharing that wonderful news. Many of us worry about this.
 
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