DEJERINE-SOTTAS NEUROPATHY IS ASSOCIATED WITH A DE-NOVO PMP22 MUTATION

We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Dejerine-Sottas neuropathy. Single stranded conformation analysis of PCR-amplified DNA fragments showed an additional fragment for exon 1 in the patient, which was absent in the unaffected parents. Sequence analysis showed a de novo point mutation C-85-->A that results in an amino acid substitution His12Gln in the first transmembrane domain of PMP22. This provides further evidence that sporadic cases of Dejerine-Sottas neuropathy can be due to dominant single base substitutions, (C) 1995 Wiley Liss, Inc.