Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis

Mutations in the early growth response 2 gene (EGR2) cause demyelinating neuropathies differing in severity and age of onset. We tested 46 unrelated Czech patients with dominant or sporadic demyelinating CMT neuropathy for mutations in the EGR2 gene. One novel de-novo mutation (Arg359Gln, R359Q) was...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2005-11, Vol.15 (11), p.764-767
Main Authors: Mikešová, E., Hühne, K., Rautenstrauss, B., Mazanec, R., Baránková, L., Vyhnálek, M., Horáček, O., Seeman, P.
Format: Article
Language:English
Subjects:
Adolescent
Arg359GIn
Arginine - genetics
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease - complications
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - physiopathology
Charcot-Marie-Tooth Disease - radiotherapy
DNA Mutational Analysis - methods
DNA-Binding Proteins - genetics
EGR2
Female
Glutamine - genetics
HMSN Type I
Humans
Male
Mutation
Neural Conduction - physiology
Neurologic Examination
Peripheral Nerves - physiopathology
Peripheral neuropathy
Radiography
Scoliosis - complications
Scoliosis - diagnostic imaging
Scoliosis - genetics
Scoliosis - physiopathology
Trans-Activators - genetics
Transcriptional Regulator ERG
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Summary:Mutations in the early growth response 2 gene (EGR2) cause demyelinating neuropathies differing in severity and age of onset. We tested 46 unrelated Czech patients with dominant or sporadic demyelinating CMT neuropathy for mutations in the EGR2 gene. One novel de-novo mutation (Arg359Gln, R359Q) was identified in heterozygous state in a patient with a typical CMT1 phenotype, progressive moderate thoracolumbar scoliosis and without clinical signs of cranial nerve dysfunction. This patient is presently less affected compared to previously described Dejerine–Sottas neuropathy (DSN) patients carrying another substitution at codon 359 (Arg359Trp, R359W). This report shows that EGR2 mutations are rare in Czech patients with demyelinating type of CMT and suggests that different substitutions at codon 359 of EGR2 can cause significantly different phenotypes.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2005.08.001