Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating neuropathy. Point mutations in the PMP22 gene are a rare cause of HNPP. A novel PMP22 splice site mutation (c.179+1 G→C) is reported in an HNPP family. By reverse transcriptase-polymerase chain reaction experiments, this mutation was shown to cause the synthesis of an abnormal mRNA in which a premature stop codon probably produces a truncated non-functional protein.
- CMT1A, Charcot-Marie-Tooth disease type 1A
- HNPP, hereditary neuropathy with liability to pressure palsies
- PFGE, pulsed field gel electrophoresis
- SSCP, single strand conformation polymorphism
- splice site mutation
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Competing interests: none declared
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