An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.
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ABSTRACT:
SUBMITTER: Bellone E
PROVIDER: S-EPMC2077485 | biostudies-literature | 2006 Apr
REPOSITORIES: biostudies-literature
Publications
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.
Bellone E E Balestra P P Ribizzi G G Schenone A A Zocchi G G Di Maria E E Ajmar F F Mandich P P
Journal of neurology, neurosurgery, and psychiatry 20050930 4
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. ...[more]
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