Article
Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes.
EMBO molecular medicine - 1 Dec 2015
Stepniak Beata, Kästner Anne, Poggi Giulia, Mitjans Marina, Begemann Martin, Hartmann Annette, Van der Auwera Sandra, Sananbenesi Farahnaz, Krueger-Burg Dilja, Matuszko Gabriela, Brosi Cornelia, Homuth Georg, Völzke Henry, Benseler Fritz, Bagni Claudia, Fischer Utz, Dityatev Alexander, Grabe Hans-Jörgen, Rujescu Dan, Fischer Andre, Ehrenreich Hannelore
Abstract excerpt
Fragile X syndrome (FXS) is mostly caused by a CGG triplet expansion in the fragile X mental retardation 1 gene (FMR1). Up to 60% of affected males fulfill criteria for autism spectrum disorder (ASD), making FXS the most frequent monogenetic cause of syndromic ASD. It is unknown, however, whether normal variants (independent of mutations) in the fragile X gene family (FMR1, FXR1, FXR2) and in FMR2 modulate...
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