Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2022-01-15

AUTHORS

Kohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, Keisuke Hamada, Takao Komatsubara, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Atsushi Fujita, Takeshi Mizuguchi, Benedicte Gerard, Allan Bayat, Berardo Rinaldi, Mitsuhiro Kato, Jun Tohyama, Kazuhiro Ogata, Yun Stone Shi, Kuniaki Saito, Satoko Miyatake, Naomichi Matsumoto

ABSTRACT

GRIA3 at Xq25 encodes glutamate ionotropic receptor AMPA type 3 (GluA3), a subunit of postsynaptic glutamate-gated ion channels mediating neurotransmission. Hemizygous loss-of-function (LOF) variants in GRIA3 cause a neurodevelopmental disorder (NDD) in male individuals. Here, we report a gain-of-function (GOF) variant at GRIA3 in a male patient. We identified a hemizygous de novo missense variant in GRIA3 in a boy with an NDD: c.1844C > T (p.Ala615Val) using whole-exome sequencing. His neurological signs, such as hypertonia and hyperreflexia, were opposite to those in previous cases having LOF GRIA3 variants. His seizures and hypertonia were ameliorated by carbamazepine, inhibiting glutamate release from presynapses. Patch-clamp recordings showed that the human GluA3 mutant (p.Ala615Val) had slower desensitization and deactivation kinetics. A fly line expressing a human GluA3 mutant possessing our variant and the Lurcher variant, which makes ion channels leaky, showed developmental defects, while one expressing a mutant possessing either of them did not. Collectively, these results suggest that p.Ala615Val has GOF effects. GRIA3 GOF variants may cause an NDD phenotype distinctive from that of LOF variants, and drugs suppressing glutamatergic neurotransmission may ameliorate this phenotype. This study should help in refining the clinical management of GRIA3-related NDDs. More... »

PAGES

283-293

References to SciGraph publications

  • 2015-11-05. Effects of Levetiracetam, Carbamazepine, Phenytoin, Valproate, Lamotrigine, Oxcarbazepine, Topiramate, Vinpocetine and Sertraline on Presynaptic Hippocampal Na+ and Ca2+ Channels Permeability in NEUROCHEMICAL RESEARCH
  • 2017-07-24. Channel opening and gating mechanism in AMPA-subtype glutamate receptors in NATURE
  • 1993-01. A synaptic model of memory: long-term potentiation in the hippocampus in NATURE
  • 2015-03-05. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology in GENETICS IN MEDICINE
  • 2013-07-11. Neuronal necrosis and spreading death in a Drosophila genetic model in CELL DEATH & DISEASE
  • 2020-03-17. Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders in GENOME MEDICINE
  • 2016-04-15. Synaptic AMPA receptor composition in development, plasticity and disease in NATURE REVIEWS NEUROSCIENCE
  • 2014-04-11. X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-08-21. Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals in NATURE COMMUNICATIONS
  • 2010-08. MutationTaster evaluates disease-causing potential of sequence alterations in NATURE METHODS
  • 2017-06-19. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains in NATURE NEUROSCIENCE
  • 1997-08. Neurodegeneration in Lurcher mice caused by mutation in δ2 glutamate receptor gene in NATURE
  • 2009-06-25. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm in NATURE PROTOCOLS
  • 2020-10-10. Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy in JOURNAL OF HUMAN GENETICS
  • 2008-03-02. Exploiting position effects and the gypsy retrovirus insulator to engineer precisely expressed transgenes in NATURE GENETICS
  • 2015-12-08. Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia in JOURNAL OF NEUROLOGY
  • 2020-05-27. The mutational constraint spectrum quantified from variation in 141,456 humans in NATURE
  • 2016-02-25. Human genetic variation database, a reference database of genetic variations in the Japanese population in JOURNAL OF HUMAN GENETICS
  • 2010-04. A method and server for predicting damaging missense mutations in NATURE METHODS
  • Journal

    TITLE

    Human Genetics

    ISSUE

    2

    VOLUME

    141

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00439-021-02416-7

    DOI

    http://dx.doi.org/10.1007/s00439-021-02416-7

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1144686127

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/35031858


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