HMSN III (Dejerine-Sottas)

Overview

General Clinical Types Dejerine & Sottas 1893 General Severe Infant onset Slowly progressive Genetic types: Dejerine-Sottas (DSS) DSS- A: PMP-22 B: P0 C: 8q23 Periaxin EGR2 General: Dominant are often sporadic DSS-A: PMP-22 point mutations ● Chromosome 17; Dominant Genetics Mutation locations Transmembrane domains Domains 1, 2, 3 & 4 Transmembrane domain mutations also seen in CMT1A Hot spot for mutations: Ser72 26% of PMP-22 point mutations Mutations: Ser72Pro; Ser72Trp; Ser72Leu (Most frequent) Phenotype: Usually severe; Onset 1st year; Most never walk Mutation type: CG to TG transitions com

Associated Genes

OMIM Entries

External Resources