title: Resequencing of early growth response 2 (EGR2) gene revealed a recurrent patient-specific mutation in schizophrenia.
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.
authors.affiliation: Department of Psychiatry, Yuli Mental Health Research Center, Yuli Branch, Taipei Veterans General Hospital, Hualien, Taiwan.
authors.forename: Tsung-Ming
authors.initials: TM
authors.lastname: Hu
authors.affiliation: Department of Psychiatry, Chang Gung Memorial Hospital at Linkou and Department and Graduate School of Biomedical Sciences Chang Gung University, Taoyuan, Taiwan.
authors.forename: Chia-Hsiang
authors.initials: CH
authors.lastname: Chen
authors.affiliation: Department of Psychiatry, Yuli Mental Health Research Center, Yuli Branch, Taipei Veterans General Hospital, Hualien, Taiwan.
authors.forename: Yang-An
authors.initials: YA
authors.lastname: Chuang
authors.affiliation: Department of Psychiatry, Yuli Mental Health Research Center, Yuli Branch, Taipei Veterans General Hospital, Hualien, Taiwan.
authors.forename: Shih-Hsin
authors.initials: SH
authors.lastname: Hsu
authors.affiliation: Department of Psychiatry, Yuli Mental Health Research Center, Yuli Branch, Taipei Veterans General Hospital, Hualien, Taiwan; Center for General Education, St. Mary׳s Junior College of Medicine, Nursing and Management, Yilan County, Taiwan. Electronic address: uncle055@yahoo.com.
authors.forename: Min-Chih
authors.initials: MC
authors.lastname: Cheng
mesh_terms: D000328:Adult; D004268:DNA-Binding Proteins / Q000235:genetics; D051767:Early Growth Response Protein 2 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012559:Schizophrenia / Q000175:diagnosis* / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D004268:DNA-Binding Proteins; C497326:EGR2 protein, human; D051767:Early Growth Response Protein 2
keywords: EGR2; Rare mutation; Schizophrenia