A novel 3′-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating peripheral neuropathy. Clinical hallmarks are recurrent painless focal neuropathies mostly preceded by minor trauma or compression at entrapment sites of peripheral nerves. In the majority of the...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2001-05, Vol.11 (4), p.400-403
Main Authors: Meuleman, J, Pou-Serradell, A, Löfgren, A, Ceuterick, C, Martin, J.J, Timmerman, V, Van Broeckhoven, C, De Jonghe, P
Format: Article
Language:English
Subjects:
3′Splice-site mutation
Adult
Base Sequence - genetics
Child
Chromosome 17p11.2-p12
DNA, Recombinant
Electrophysiology
Female
Hereditary neuropathy with liability to pressure palsies
Hereditary Sensory and Motor Neuropathy - genetics
Hereditary Sensory and Motor Neuropathy - pathology
Hereditary Sensory and Motor Neuropathy - physiopathology
Humans
Male
Mutation - genetics
Myelin Proteins - genetics
Paralysis - genetics
Pedigree
PMP22 gene
Pressure
Sural Nerve - pathology
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Summary:Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating peripheral neuropathy. Clinical hallmarks are recurrent painless focal neuropathies mostly preceded by minor trauma or compression at entrapment sites of peripheral nerves. In the majority of the patients, HNPP is caused by a 1.5 Mb deletion on chromosome 17p11.2-p12 containing the peripheral myelin protein 22 (PMP22) gene. Point mutations within this gene are reported in only a few families. We report a novel mutation in the PMP22 gene in a Spanish family with HNPP. The mutation is a 3′ splice-site mutation, preceding coding exon 3 (c.179-1 G>C), causing a mild HNPP phenotype.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(00)00214-5