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CACNB4 mutation

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mrluu55

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Hello everyone.
I come back with an update about genetic test.
They found CACNB4 gene mutations on my father with CACNB4 variants: NM_001330115,: exon6,: c.G518A,: p.R173Q, Chr2. That's a autosome dominant and I'm 75% able to carry a mutant. I'm currently waiting for my own genetic test results.
I learned and found this gene mainly caused ataxia, not MND. But my father was diagnosed very clearly with als. So the genetic test result made me so confused.
Can I ask you guys who have knowledge of the mutant gene with ALS disease?
Thank you so much for all the respones.
My previous topic: https://www.alsforums.com/forum/do-i-have-als-als/43074-my-sister-i-have-same-symptoms-same-time-after-my-father-diagnosed.html
 

Nikki J

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I don’t think it is known to be associated with ALS. It may be sheer coincidence that your dad got ALS. There are numerous ongoing studies looking at genomes of PALS. So far I can’t find any reports that they think your dad’s gene has an association. Lots of people have odd mutations- not all get the associated disease in this case epilepsy and ataxia

I do not think it is possible to have a 75 percent chance of inheriting something genetic. You get one strand of dna from each parent. Each parent has pairs of genes and donates one of each pair. If your dad had, as is usual with a mutation, one normal and one abnormal copy of this gene, you have a fifty percent chance of getting the mutated one and a fifty percent chance of getting the unaffected one. This is basic genetics

The genetics of FALS has been very heavily studied and there are neurogeneticists who spend their careers searching for unrecognized FALS mutations. The mutation you mention is something they would see if it was turning up in documented FALS families because it shows up in current tests.

There is still no evidence your family is FALS
 
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mrluu55

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Loved one DX
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Nikki, I have read your research about ALS mutations in calcium channel as the links below.
https://alsnewstoday.com/2016/08/04/ALS-Mutations-in-Calcium-Channel-Disrupt-Deep-Brain-Neurons-Contributing-to-Movement
In the Czech Republic, there is a center specializing in research on this issue: PUBLICATIONS | The Weiss Lab
This makes me very sad because ALS mutations in calcium channel can cause ALS. I have no chance at all. I will write to ask them how to prevent mutations from progressing to disease early to protect the kids.
 

Nikki J

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That person appears to have 2 copies so if and it is if it is causative ( they say susceptible) it is recessive meaning you need to inherit from both parents to be affected and your kids would likewise have to inherit from you and their mother. You have not been diagnosed with ALS or gene tested? You are getting ahead of yourself

You stated above it was autosomal dominant. The paper you linked says recessive. Do you know your dad had two copies? Is that where you got 75% chance? That would only be true if your mother is a confirmed carrier. If she doesn’t have it then you could only be a carrier and the issue for your kids would also be the status of their mother.

Also the paper is a single case There is still the chance it was pure coincidence
 
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