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  3. The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease

Fecha de publicación:

Autores de CIPF

  • María Dolores Martínez Rubio

    Autor

  • Vincenzo Lupo

    Autor

  • Joaquin Dopazo Blázquez

    Autor

  • Francesc Palau Martínez

    Autor

Participantes ajenos a CIPF

  • Sevilla, T
  • Sivera, R
  • Chumillas, MJ
  • Calpena, E
  • Vilchez, JJ

Grupos de Investigación

Abstract

Background and purpose: A three-generation family affected by axonal Charcot-Marie-Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype. Methods: The clinical, nerve conduction studies and muscle magnetic resonance images of the patients were reviewed. A whole exome sequencing was performed and the changes were investigated by genetic studies, in silico analysis and luciferase reporter assays. Results: A novel c.1226G>A change (p.R409Q) in the EGR2 gene was identified. Patients presented with a typical, late-onset axonal CMT phenotype with variable severity that was confirmed in the ancillary tests. The in silico studies showed that the residue R409 is an evolutionary conserved amino acid. The p.R409Q mutation, which is predicted as probably damaging, would alter the conformation of the protein slightly and would cause a decrease of gene expression. Conclusions: This is the first report of an EGR2 mutation presenting as an axonal CMT phenotype with variable severity. This study broadens the phenotype of the EGR2-related neuropathies and suggests that the genetic testing of patients suffering from axonal CMT should include the EGR2 gene.

Datos de la publicación

ISSN/ISSNe:
1351-5101, 1468-1331

EUROPEAN JOURNAL OF NEUROLOGY  WILEY

Tipo:
Article
Páginas:
1548-1555
PubMed:
26204789

Citas Recibidas en Web of Science: 25

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Keywords

  • Charcot-Marie-Tooth disease; EGR2 gene; hereditary motor sensory neuropathy; whole exome sequencing

Campos de Estudio

Proyectos asociados

Neurodegeneration with Brain Iron Accumulation: Clinical Assessment and Genetic Characterization by means of a Spanish Multi-Centre Research Network

Investigador Principal: CARMEN ESPINÓS ARMERO

FUNDACION LA MARATO DE TV3 . 2015

Caracterización de MORC2, nexo de unión de neuropatías hereditarias sensitivo-motoras

Investigador Principal: CARMEN ESPINÓS ARMERO

FUNDACION RAMON ARECES . 2015

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