An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.

ABSTRACT: 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.

SUBMITTER: Bellone E 

PROVIDER: S-EPMC2077485 | biostudies-literature | 2006 Apr

REPOSITORIES: biostudies-literature