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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Chromosomes, Human, Pair 17 / genetics
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DNA Primers / genetics
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Exons / genetics
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Female
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Gene Duplication
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Hereditary Sensory and Autonomic Neuropathies / genetics*
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Hereditary Sensory and Autonomic Neuropathies / pathology
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Hereditary Sensory and Autonomic Neuropathies / physiopathology*
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Humans
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Myelin Proteins / genetics*
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Neural Conduction / physiology
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Point Mutation / genetics*
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RNA Splice Sites / genetics*
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RNA, Messenger / genetics*
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Sural Nerve / pathology
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Sural Nerve / physiopathology*
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Tibial Neuropathy / physiopathology
Substances
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DNA Primers
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Myelin Proteins
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PMP22 protein, human
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RNA Splice Sites
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RNA, Messenger