Resequencing of early growth response 2 (EGR2) gene revealed a recurrent patient-specific mutation in schizophrenia

Psychiatry Res. 2015 Aug 30;228(3):958-60. doi: 10.1016/j.psychres.2015.05.035. Epub 2015 Jun 6.

Abstract

Abnormal myelination is considered as part of the pathophysiology of schizophrenia. We resequenced the genomic DNA of the EGR2, which has a specific function in the myelination of peripheral nervous system, in 543 schizophrenic patients and 554 non-psychotic controls. We identified six known SNPs, which were not associated with schizophrenia. Nevertheless, we discovered 24 rare mutations, some of them were patient-specific, including a recurrent mutation (p.P173_Y174insP), which might be associated with the pathogenesis of schizophrenia.

Keywords: EGR2; Rare mutation; Schizophrenia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA-Binding Proteins / genetics
  • Early Growth Response Protein 2 / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Schizophrenia / diagnosis*
  • Schizophrenia / genetics*
  • Sequence Analysis, DNA / methods*

Substances

  • DNA-Binding Proteins
  • EGR2 protein, human
  • Early Growth Response Protein 2