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.

Klíčová slova

• Charcot-Marie-Tooth neuropathy
• CMT1A
• Dejerine-Sottas neuropathy
• hereditary neuropathy with liability to pressure palsies
• PMP22 gene
• marie-tooth disease
• hereditary neuropathy
• pressure palsies
• site mutation
• liability
• sequence
• identification
• duplication
• type-1a