DEJERINE-SOTTAS SYNDROME-ASSOCIATED WITH POINT MUTATION IN THE PERIPHERAL MYELIN PROTEIN 22 (PMP22) GENE

Dejerine-Sottas syndrome is a hypertrophic, demyelinating neuropathy w hich appears to demonstrate autosomal recessive inheritance in most pe digrees. Clinical symptoms are similar but more severe than Charcot-Ma rie-Tooth disease type 1 (CMT1), of which the major subtype, CMT1A, re sults either from duplication of a 1.5-megabase DNA region in chromoso me 17p11.2-p12 containing the myelin gene PMP22, or from PMP22 point m utation. Mutational analysis of the PMP22 coding region in two unrelat ed Dejerine-Sottas patients identified individual missense point mutat ions present in the heterozygous state. These findings suggest that De jerine-Sottas syndrome can result from dominant point mutation alleles of PMP22.