Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

Abstract

Dejerine–Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance in most pedigrees. Clinical symptoms are similar but more severe than Charcot–Marie–Tooth disease type 1 (CMT1), of which the major subtype, CMT1 A, results either from duplication of a 1.5–megabase DNA region in chromosome 17p11.2–p12 containing the myelin gene PMP22, or from PMP22 point mutation. Mutational analysis of the PMP22 coding region in two unrelated Dejerine–Sottas patients identified individual missense point mutations present in the heterozygous state. These findings suggest that Dejerine–Sottas syndrome can result from dominant point mutation alleles of PMP22.

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Roa, B., Dyck, P., Marks, H. et al. Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 5, 269–273 (1993). https://doi.org/10.1038/ng1193-269

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