Marija Kojic, Tomasz Gawda, Monika Gaik, Alexander Begg, Anna Salerno-Kochan, Nyoman D Kurniawan, Alun Jones, Katarzyna Drożdżyk, Anna Kościelniak, Andrzej Chramiec-Głąbik, Soroor Hediyeh-Zadeh, Maria Kasherman, Woo Jun Shim, Enakshi Sinniah, Laura A Genovesi, Rannvá K Abrahamsen, Christina D Fenger, Camilla G Madsen, Julie S Cohen, Ali Fatemi, Zornitza Stark, Sebastian Lunke, Joy Lee, Jonas K Hansen, Martin F Boxill, Boris Keren, Isabelle Marey, Margarita S Saenz, Kathleen Brown, Suzanne A Alexander, Sergey Mureev, Alina Batzilla, Melissa J Davis, Michael Piper, Mikael Bodén, Thomas H J Burne, Nathan J Palpant, Rikke S Møller, Sebastian Glatt, Brandon J Wainwright
Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common neurodevelopmental disorders and are characterized by substantial impairment in intellectual and adaptive functioning, with their genetic and molecular basis remaining largely unknown. Here, we identify biallelic variants in the gene encoding one of the Elongator complex subunits, ELP2, in patients with ID and ASD. Modelling the variants in mice recapitulates the patient features, with brain imaging and tractography analysis revealing microcephaly, loss of white matter tract integrity and an aberrant functional connectome...
May 11, 2021: Nature Communications