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 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.
Copyright © 2011 Wiley Periodicals, Inc.
Publication types
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Case Reports
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Comparative Study
MeSH terms
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Adult
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Arthrogryposis / diagnosis
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Arthrogryposis / genetics*
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Charcot-Marie-Tooth Disease / diagnosis
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Charcot-Marie-Tooth Disease / genetics*
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Child, Preschool
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Female
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Hereditary Sensory and Motor Neuropathy / diagnosis
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Hereditary Sensory and Motor Neuropathy / genetics*
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Humans
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Male
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Middle Aged
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Myelin Proteins / genetics*
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Phenotype*
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Point Mutation / genetics*
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Young Adult
Substances
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Myelin Proteins
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PMP22 protein, human