An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.
case_report · Level V
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- Record sourced from PubMed, PMID 16199442.
- Also identified by PMC identifier 2077485.
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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.
Medical subject headings
- Hereditary Sensory and Autonomic Neuropathies
- Myelin Proteins
- Point Mutation
- RNA Splice Sites
- RNA, Messenger
- Sural Nerve