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

Tsung Ming Hu; Chia Hsiang Chen; Yang An Chuang; Shih Hsin Hsu; Min Chih Cheng

doi:10.1016/j.psychres.2015.05.035

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

Tsung Ming Hu, Chia Hsiang Chen, Yang An Chuang, Shih Hsin Hsu, Min Chih Cheng^*

^*Corresponding author for this work

Department of Biomedical Sciences (Master's Program in Clinical Trials Assessment)

Research output: Contribution to journal › Journal Article › peer-review

7 Scopus citations

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.

Original language	English
Pages (from-to)	958-960
Number of pages	3
Journal	Psychiatry Research
Volume	228
Issue number	3
DOIs	https://doi.org/10.1016/j.psychres.2015.05.035
State	Published - 30 08 2015

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Publisher Copyright:
© 2015 Elsevier Ireland Ltd.

Keywords

EGR2
Rare mutation
Schizophrenia

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10.1016/j.psychres.2015.05.035

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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.",

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AU - Hu, Tsung Ming

AU - Chen, Chia Hsiang

AU - Chuang, Yang An

AU - Hsu, Shih Hsin

AU - Cheng, Min Chih

PY - 2015/8/30

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N2 - 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.

AB - 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.

KW - EGR2

KW - Rare mutation

KW - Schizophrenia

UR - https://www.scopus.com/pages/publications/84938740080

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DO - 10.1016/j.psychres.2015.05.035

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JO - Psychiatry Research

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IS - 3

ER -

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

Abstract

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Keywords

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