SH3TC2 and neuropathy: Although their interpretation as not causative by themselves of the neuropathy may seem relatively straightforward, they require careful consideration as large rearrangements or variants in promoter/noncoding regions on the other allele could be missed by both NGS and Sanger sequencing, as exemplified by 2 cases here reported carrying point mutations in SH3TC2 or FDG4 in one allele and a larger rearrangement on the other allele.