THE MODIFYING EFFECT A PMP22 DELETION IN A FAMILY WITH CHARCOT-MARIE-TOOTH TYPE 1 NEUROPATHY DUE TO AN EGR2 MUTATION
Publication Date
2014
Journal Title
Ideggyogy Sz
Abstract
Background Mutations of both the PMP22 and EGR2 genes cause Charcot-Marie-Tooth (CMT) disease type 1. Deletion of the PM P22 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 (Arg381His) heterozygous substitution in the EGR2 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 Arg381His substitution in the EGR2 gene.
Volume Number
67
Issue Number
11-12
Pages
420-425
Document Type
Article
Status
Northwell Researcher
Facility
Northwell Health
Primary Department
Psychiatry
PMID
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