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

doi:10.1038/ng0394-263

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

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222 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 language	English
Pages (from-to)	263-266
Number of pages	4
Journal	Nature Genetics
Volume	6
Issue number	3
DOIs	https://doi.org/10.1038/ng0394-263 https://doi.org/10.1038/ng0594-113c
Publication status	Published - 1994
Externally published	Yes

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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Nicholson, G. A., Valentijn, L. J., Cherryson, A. K., Kennerson, M. L., Bragg, T. L., Dekroon, R. M., Ross, D. A., Pollard, J. D., McLeod, J. G., Bolhuis, P. A., & Baas, F. (1994). A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nature Genetics, 6(3), 263-266. https://doi.org/10.1038/ng0394-263, https://doi.org/10.1038/ng0594-113c

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title = "A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies",

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.",

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

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

year = "1994",

doi = "10.1038/ng0394-263",

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T1 - A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

AU - Nicholson, Garth A.

AU - Valentijn, Linda J.

AU - Cherryson, Annia K.

AU - Kennerson, Marina L.

AU - Bragg, Tara L.

AU - Dekroon, Robert M.

AU - Ross, David A.

AU - Pollard, John D.

AU - McLeod, James G.

AU - Bolhuis, Pieter A.

AU - Baas, Frank

N1 - Erratum can be found in Nature Genetics, 7(1) , p. 113, 1994. https://doi.org/10.1038/ng0594-113c

PY - 1994

Y1 - 1994

N2 - 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.

AB - 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.

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

Abstract

Bibliographical note

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