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Rare de novo deletion of metabotropic glutamate receptor 7 ( GRM7 ) gene in a patient with autism spectrum disorder
Author(s) -
Liu Yi,
Zhang Yanqing,
Zhao Dongmei,
Dong Rui,
Yang Xiaomeng,
Tammimies Kristiina,
Uddin Mohammed,
Scherer Stephen W.,
Gai Zhongtao
Publication year - 2015
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.32306
Subject(s) - metabotropic glutamate receptor , biology , haploinsufficiency , genetics , autism spectrum disorder , exon , neuroscience , bioinformatics , glutamate receptor , autism , psychiatry , gene , psychology , phenotype , receptor
GRM7, the gene encoding metabotropic glutamate receptor 7 (mGluR7), have been implicated in multiple neuropsychiatric disorders and shown to mediate excitatory synaptic neurotransmitter signaling and plasticity in the mammalian brain. Here we report a 303 kb de novo deletion at band 3p26.1, disrupting five coding exons of GRM7 in a proband with autism spectrum disorder, and hyperactivity. Our exon transcriptome‐mutation contingency index method shows that three of the exons within the breakpoint boundaries are under purifying selection and highly expressed in prenatal brain regions. Based on our results and a thorough review of the literature, we propose that haploinsufficiency of the GRM7 product (mGluR7) contributes to autism spectrum disorders and hyperactivity phenotype as seen in the patient described here. © 2015 Wiley Periodicals, Inc.