G C A T T A C G G C A T genes Article Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism Natalie Young 1,†, Maria Asif 2,3,†, Matthew Jackson 1 , Daniel Martín Fernández-Mayoralas 4, Mar Jimenez de la Peña 4, Beatriz Calleja-Pérez 5, Sara Álvarez 6, Eve Hunter-Featherstone 1, Angelika A. Noegel 3 , Wolfgang Höhne 2, Peter Nürnberg 2,7 , Boguslaw Obara 8,9, Muhammad Sajid Hussain 2,3,7,* , Iakowos Karakesisoglou 1,* and Alberto Fernández-Jaén 10,* 1 Department of Biosciences, University of Durham, South Road, Durham DH1 3LE, UK;
[email protected] (N.Y.);
[email protected] (M.J.);
[email protected] (E.H.-F.) 2 Cologne Center for Genomics (CCG), University Hospital Cologne, University of Cologne, 50931 Cologne, Germany;
[email protected] (M.A.);
[email protected] (W.H.);
[email protected] (P.N.) 3 Center for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany;
[email protected] 4 Department of Pediatric Neurology, Hospital Universitario Quirónsalud, 28223 Madrid, Spain;
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[email protected] (M.J.d.l.P.) 5 Citation: Young, N.; Asif, M.; Pediatric Primary Care, C. S. Doctor Cirajas, 28017 Madrid, Spain;
[email protected] 6 Department of Genomics and Medicine, Genomics and Medicine, NIMGenetics, 28108 Madrid, Spain; Jackson, M.; Fernández-Mayoralas,
[email protected] D.M.; de la Peña, M.J.; Calleja-Pérez, 7 Center for Molecular Medicine Cologne (CMMC), University Hospital Cologne, University of Cologne, B.; Álvarez, S.; Hunter-Featherstone, 50931 Cologne, Germany E.; Noegel, A.A.; Höhne, W.; et al.