This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/humu.23678. This article is protected by copyright. All rights reserved. Recessive Mutations in the Neuronal Isoforms of DST, Encoding Dystonin, Lead to Abnormal Actin Cytoskeleton Organization and HSAN type VI Paola Fortugno 1 , Francesco Angelucci 2 , Gianluca Cestra 3,4 , Letizia Camerota 2 , Angelo Salvatore Ferraro 5 , Sonia Cordisco 1,2 , Luigi Uccioli 6 , Daniele Castiglia 1 , Barbara De Angelis 7 , Ingo Kurth 8 , Uwe Kornak 9,10 , Francesco Brancati 1,2 1 Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell’Immacolata, IDI-IRCCS, Rome, Italy; 2 Department of Life, Health & Environmental Sciences, University of L'Aquila, L'Aquila, Italy; 3 IBPM, Istituto di Biologia e Patologia Molecolari, CNR, Rome, Italy; 4 Deptartment of Biology and Biotechnology, University of Rome “Sapienza”, Rome, Italy; 5 Servizio di Immunoematologia e Medicina Trasfusionale, Policlinico Tor Vergata, Rome, Italy; 6 Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy; 7 Department of Plastic and Reconstructive Surgery, University of Rome “Tor Vergata”, Rome, Italy; 8 Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany; 9 Institut für Medizinische Genetik und Humangenetik and Berlin-Brandenburg Center for Regenerative Therapies, Charité, Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; 10 FG Development & Disease, Max-Planck- Institut fuer Molekulare Genetik, Berlin, Germany Corresponding author: Francesco Brancati Department of Life, Health and Environmental Sciences University of L’Aquila Piazzale Salvatore Tommasi 1 67100 – Coppito (AQ) Italy Phone: +39 0862 434716 Email: francesco.brancati@univaq.it Funding information: This research was supported in part by grants “Fondi Ricerca Premiale”, “Fondi RIA 2016” from the University of L’Aquila to FB, “Ricerca Finalizzata” and “Ricerca Corrente 2018-2020” from Italian Ministry of Health to FB, PF and DC. UK received funding through the grants OsteoPath