Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy

Abstrakt

We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine-Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320-1 G>C, and p.Trp140Stop segregated with HNPP in 5 families. Our findings show that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of CMT1A/HNPP.

Muscle Nerve 44: 819-822, 2011

Klíčová slova

• Charcot-Marie-Tooth neuropathy
• CMT1A
• Dejerine-Sottas neuropathy
• hereditary neuropathy with liability to pressure palsies
• PMP22 gene