Dejerine‐sottas neuropathy and PMP22 point mutations: A new base pair substitution and a possible “hot spot” on Ser72

This is the authors' abstract. We don't add key points for this paper.

The occurrence of mutations in peripheral myelin protein 22 is one of the genetic mechanisms associated with Dejerine-Sottas neuropathy (DSN). On direct sequencing 2 of such patients we have found the first mutation in the third transmembrane domain associated with this neuropathy and the fourth Ser72Leu. We propose that the Ser72 may be a "hot spot" for DSN and that this should be considered for molecular analysis.