A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

Garth A. Nicholson, Linda J. Valentijn, Annia K. Cherryson, Marina L. Kennerson, Tara L. Bragg, Robert M. Dekroon, David A. Ross, John D. Pollard, James G. McLeod, Pieter A. Bolhuis, Frank Baas

Research output: Contribution to journalArticlepeer-review

209 Citations (Scopus)

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) has been a associated with a deletion of 1.5 megabases of chromosome 17p. One of four biopsy proven HNPP families that we have studied did not possess this deletion. As the deleted DNA region includes the coding region for a peripheral myelin gene (PMP22), we used single strand conformation analysis to examine this gene for mutations in the non-deleted HNPP family. An abnormal fragment in exon 1 was identified, and sequencing revealed a two base pair deletion in all affected family members. The deletion results in a frame shift, providing strong evidence that this gene has an important role in the pathogenesis of the disease.

Original languageEnglish
Pages (from-to)263-266
Number of pages4
JournalNature Genetics
Volume6
Issue number3
DOIs
Publication statusPublished - 1994
Externally publishedYes

Bibliographical note

Erratum can be found in Nature Genetics, 7(1) , p. 113, 1994.
https://doi.org/10.1038/ng0594-113c

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