The modifying effect a PMP22 deletion in a family with charcot-marie-tooth type 1 neuropathy due to an EGR2 mutation

Viktória Reményi, Gabriella Inczédy-Farkas, Anikó Gál, Benjamin Bereznai, Zsuzsanna Pál, Veronika Karcagi, Ferenc Mechler, Mária Judit Molnár

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Abstract

Background: Mutations of both the PMP22 and EGR2 genes cause Charcot-Marie-Tooth (CMT) disease type 1. Deletion of the PMP22 gene, results in hereditary neuropathy with liability to pressure palsies. More publications exist about the interaction of PMP22 duplication and other CMT-causing gene mutations. In these cases the intrafamiliar discordant phenotypes draw the attention to the possible role of modifying genes. The gene-gene interactions between the PMP22 and EGR2 genes are not well understood. Case report: We report two brothers with late onset CMT1 due to a c. 1142 G>A (Arg381 His) heterozygous substitution in the ECR2 gene. Additionally, the older brother with the less severe symptoms harbored the PMP22 gene deletion also. Conclusion: The coexistence of the two genetic alterations did not aggravate the clinical symptoms. Moreover, the PMP22 deletion appeared to have a beneficial modifying effect, thus implying potential gene-gene interaction of PMP22 and EGR2. PMP22 deletion may increase Schwann cells proliferation and compensate the dominant-negative effect of the Arg381 His substitution in the EGR2 gene.

Original languageEnglish
Pages (from-to)420-425
Number of pages6
JournalIdeggyogyaszati szemle
Volume67
Issue number11-12
Publication statusPublished - Nov 30 2014

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Keywords

  • CMT
  • Coexistence
  • EGR2 gene mutation
  • Gene-gene interaction
  • PMP22 deletion

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Reményi, V., Inczédy-Farkas, G., Gál, A., Bereznai, B., Pál, Z., Karcagi, V., Mechler, F., & Molnár, M. J. (2014). The modifying effect a PMP22 deletion in a family with charcot-marie-tooth type 1 neuropathy due to an EGR2 mutation. Ideggyogyaszati szemle, 67(11-12), 420-425.