Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum, Miriam S Reuter, Jeffrey R MacDonald, Sangyoon Y Ko, Paul W Frankland, Leslie Granger, George Anadiotis, Verdiana Pullano, Alfredo Brusco, Roberto Keller, Sarah Parisotto, Helio F Pedro, Laina Lusk, Pamela Pojomovsky McDonnell, Ingo Helbig, Sureni V Mullegama, Emilie D Douine, Bianca E Russell, Stanley F Nelson, Federico Zara, Stephen W Scherer
Autism Spectrum Disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males. This locus includes the three-exon PTCHD1 gene, an adjacent multi-isoform long noncoding RNA (lncRNA) named PTCHD1-AS (spanning ∼1Mb), and a poorly characterized single-exon RNA helicase named DDX53 that is intronic to PTCHD1-AS ...
December 27, 2023: medRxiv