Q:
The Lab results show my mutation has never been seen before, what does this mean?

A:

It is a key importance to check whether this mutation will modify the number of cystein residue and to if the mutation does not correspond to a non –significant variant with a geneticist.  There also has been  also identified several unreported mutations in Scotland. As long as they affect the number of cysteines in the relevant parts of the protein, these are known to cause CADASIL.

Date: 2013

CTWHH Scientific Advisory Committee

 

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