Article
A GRM7 mutation associated with developmental delay reduces mGlu7 expression and produces neurological phenotypes.
JCI insight - 22 Feb 2021
Fisher Nicole M, AlHashim Aqeela, Buch Aditi B, Badivuku Hana, Samman Manar M, Weiss Kelly M, Cestero Gabriela I, Does Mark D, Rook Jerri M, Lindsley Craig W, Conn P Jeffrey, Gogliotti Rocco G, Niswender Colleen M
Abstract excerpt
The metabotropic glutamate receptor 7 (mGlu7) is a G protein-coupled receptor that has been recently linked to neurodevelopmental disorders. This association is supported by the identification of GRM7 variants in patients with autism spectrum disorder, attention deficit hyperactivity disorder, and severe developmental delay. One GRM7 mutation previously reported in 2 patients results in a single amino acid...
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