To confirm the specificity of the phenotype resulting from the TUBA4A mutations we identified, parallel experiments were also performed in the control group, including one mutation (p.I42T) that was found in our collected in-house control database (high frequency with 0.24% in the gnomAD east Asian database) and two reported mutations (p.R215C, p.R320H) associated with familial amyotrophic lateral sclerosis (ALS) [37]. This evidence concerns the gene TUBA4A and familial amyotrophic lateral sclerosis.