What is meant by saying that the DNM1 mutation is highly associated with EIC?
Scientists are always cautious in reporting conclusions regarding data to other scientists and to the public, and in so doing usually try not to state anything has a 100% certainty of being correct. However, the chances that the DNM1 mutation is not associated with EIC are less than 1 in a trillion as reported in our Nature Genetics article. The role of DNM1 in nerve and muscle function clearly supports it being an extremely plausible EIC gene. A description of the precise effect of the DNM1 mutation on the function of the dynamin 1 protein remains before we can even more confidently state that the DNM1 mutation (i.e., E form of the this gene) is the causative EIC mutation. In other words, in calling this DNM1 mutation highly associated with EIC, we are acknowledging that we have not yet proven this mutation to be causative by functional experiments, and are simply following a convention among scientists in reserving final judgment as to whether this mutation is the absolute genetic an
