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

Author

Dana, Brožková, Radim, Mazanec, Zdeněk, Rychlý, Jana, Haberlová, Jiří, Böhm, Jan, Staněk, Pavlína, Plevová, Jana, Lisoňová, Jana, Sabová, Iva, Sakmaryová, and Pavel, Seeman

Subjects
Adult, Arthrogryposis, Male, Young Adult, Phenotype, Charcot-Marie-Tooth Disease, Child, Preschool, Humans, Point Mutation, Female, Middle Aged, Hereditary Sensory and Motor Neuropathy, Myelin Proteins
Abstract

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 GA, c.320-1 GC, 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.

Published
2011

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