To date, point mutations on PMP22 related to CMT1E have been documented including, 44 missense mutations, 14 deletions, two insertions, one reciprocal translocation, and several splice‐site and single base substitutions in noncoding region 3′ UTR (Li et al., 2013). Here, PMP22 is linked to Charcot-Marie-Tooth disease type 1E.