Old 05-06-2018, 02:23 PM #1 (permalink)
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Default FIG4/ALS11 mutation

I'm going to try to keep this short and start by saying I'm actively trying to get into a neuro at the local hospital that deals with neurodegenerative diseases.

Through genetic testing (legit, medical testing done by a Dr.) I was found to have a mutation of the FIG4/ALS11/Sac3 gene. It's deletions of exons 8-10. My son also has it. We have been diagnosed with definite CMT1A (PMP22 gene duplication). But no one seems to want to tell me what the FIG4 gene mutation means. The genetic report states that it is expected to create a premature tranational stop signal.

So like all rational people, I started googling. Yeah, I know... BAD idea. The only references I can find are to how deleterious variants of the FIG4 gene are now being linked to super rare forms of ALS. Well. That wasn't quite what I expected to find.

But what I can't seem to find - is a mutation like this enough to really give any insight into the likelihood of developing ALS? Or am I worrying about absolutely nothing?
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Old 05-06-2018, 02:40 PM #2 (permalink)
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Default Re: FIG4/ALS11 mutation

You need to speak with a neuro geneticist. My understanding is it is definitely believed to be associated with CMT which you state you have. I believe it has been found in ALS in rare cases but it is unclear that it is really implicated in the disease If you have CMT why don’t you have a neuro? And the person who ordered the test should be prepared to answer for the results
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Old 05-06-2018, 02:52 PM #3 (permalink)
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Default Re: FIG4/ALS11 mutation

The testing was through my son's neurologist. I currently don't have insurance, ergo, no neuro.

All my sons neuro would tell me is that I need to speak with an adult neurologist. Easier said than done, locating one that will accept a self pay patient is no easy task I'm finding.

The CMT - so yes, we know we definitely have that based on another gene. However, from what the kids neuro said, the fig4 mutation, the type of mutation it is, is not linked to CMT in any way. Or to the other disease linked to it (that one is deletion of the entire gene if I remember correctly).

I feel like there is something in this mess that kiddos neuro is not telling me. I just don't know what.
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Old 05-06-2018, 03:13 PM #4 (permalink)
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Default Re: FIG4/ALS11 mutation

If the neurologist does not want to address it ( understandably if you are not the patient) then you really do want to find a neuro geneticist. I suggest calling the ALS clinic and asking if they have a person on staff. Mass General has someone who specializes in the genetics of ALS and FTD
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Old 05-06-2018, 03:36 PM #5 (permalink)
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Default Re: FIG4/ALS11 mutation

https://www.uofmhealth.org/condition.../neurogenetics
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