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Support for the N-Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families

Support for the N-Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome... ORIGINAL ARTICLE Support for the N-Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families Andrew E. Timms, PhD; Michael O. Dorschner, PhD; Jeremy Wechsler, MS; Kyu Yeong Choi, PhD; Robert Kirkwood, BA; Santhosh Girirajan, MBBS, PhD; Carl Baker, BS; Evan E. Eichler, PhD; Olena Korvatska, PhD; Katherine W. Roche, PhD; Marshall S. Horwitz, MD, PhD; Debby W. Tsuang, MD, MSc Importance: Schizophrenia is a complex genetic disor- Main Outcome Measures: Rare inherited disease- der demonstrating considerable heritability. Genetic stud- related genetic mutations. ies have implicated many different genes and pathways, but much of the genetic liability remains unaccounted for. In- Results: No segregating rare copy number variants were vestigation of genetic forms of schizophrenia will lead to a detected by array comparative genomic hybridization. better understanding of the underlying molecular path- However, in all 5 families, exome sequencing detected ways, which will then enable targeted approaches for dis- rare protein-altering variants in 1 of 3 genes associated ease prevention and treatment. with the N-methyl-D-aspartate (NMDA) receptor. One pedigree shared a missense and frameshift substitution Objective: To identify new genetic factors strongly pre- of GRM5, encoding the metabotropic glutamate recep- disposing to schizophrenia in families with multiple http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Psychiatry American Medical Association

Support for the N-Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families

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References (54)

Publisher
American Medical Association
Copyright
Copyright 2013 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-622X
eISSN
2168-6238
DOI
10.1001/jamapsychiatry.2013.1195
pmid
23553203
Publisher site
See Article on Publisher Site

Abstract

ORIGINAL ARTICLE Support for the N-Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families Andrew E. Timms, PhD; Michael O. Dorschner, PhD; Jeremy Wechsler, MS; Kyu Yeong Choi, PhD; Robert Kirkwood, BA; Santhosh Girirajan, MBBS, PhD; Carl Baker, BS; Evan E. Eichler, PhD; Olena Korvatska, PhD; Katherine W. Roche, PhD; Marshall S. Horwitz, MD, PhD; Debby W. Tsuang, MD, MSc Importance: Schizophrenia is a complex genetic disor- Main Outcome Measures: Rare inherited disease- der demonstrating considerable heritability. Genetic stud- related genetic mutations. ies have implicated many different genes and pathways, but much of the genetic liability remains unaccounted for. In- Results: No segregating rare copy number variants were vestigation of genetic forms of schizophrenia will lead to a detected by array comparative genomic hybridization. better understanding of the underlying molecular path- However, in all 5 families, exome sequencing detected ways, which will then enable targeted approaches for dis- rare protein-altering variants in 1 of 3 genes associated ease prevention and treatment. with the N-methyl-D-aspartate (NMDA) receptor. One pedigree shared a missense and frameshift substitution Objective: To identify new genetic factors strongly pre- of GRM5, encoding the metabotropic glutamate recep- disposing to schizophrenia in families with multiple

Journal

JAMA Psychiatry – American Medical Association

Published: Jun 1, 2013

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