Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Emma K BakerMarta ArponeSolange M AliagaLesley BrethertonClaudine M KraanMinh BuiHoward R SlaterLing LingDavid FrancisMatthew F HunterJustine ElliottCarolyn RogersMichael FieldJonathan CohenKim CornishLorena Santa MariaVictor FaundesBianca CurottoPaulina MoralesCesar TrigoIsabel SalasAngelica M AlliendeDavid J AmorDavid E GodlerPublished in: Molecular autism (2019)
Incomplete silencing of toxic FM RNA may be associated with autistic features, but not intellectual functioning in FXS males. While decreased levels of mRNA may be more predictive of intellectual functioning than autism features. If confirmed in future studies, these findings may have implications for patient stratification, outcome measure development, and design of clinical and pre-clinical trials in FXS.