Article
Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.
Human mutation - 1 Feb 2012
Bonnet Céline, Masurel-Paulet Alice, Khan Asma Ali, Béri-Dexheimer Mylène, Callier Patrick, Mugneret Francine, Philippe Christophe, Thauvin-Robinet Christel, Faivre Laurence, Jonveaux Philippe
Abstract excerpt
GRIA3 encodes glutamate receptor ionotropic AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid) subunit 3 and has been previously involved in X-linked intellectual disability (ID). We report on a male proband with ID and epilepsy associated with a duplication mapping within a gene desert, 874-kb upstream of the GRIA3 gene. This 970-kb duplication is maternally inherited. The proband's mother has a...
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