Whole‐Exome Sequencing Identified Rare Variants in PCDHGB1 in Patients with Adult‐Onset Dystonia

Movement DisordersVolume 37, Issue 5 p. 1099-1101 Letters: New Observation Whole-Exome Sequencing Identified Rare Variants in PCDHGB1 in Patients with Adult-Onset Dystonia Li-Xi Li MD, Li-Xi Li MD Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Neurology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China These two authors contributed equally to this work.Search for more papers by this authorJie-Hong Huang MBBS, Jie-Hong Huang MBBS Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Neurology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China These two authors contributed equally to this work.Search for more papers by this authorLi-Zhen Pan MD, Li-Zhen Pan MD Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Neurology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, ChinaSearch for more papers by this authorXiao-Long Zhang MD, Xiao-Long Zhang MD Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Neurology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, ChinaSearch for more papers by this authorYou-Gui Pan MD, You-Gui Pan MD Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Neurology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, ChinaSearch for more papers by this authorLing-Jing Jin MD, Corresponding Author Ling-Jing Jin MD lingjingjin@163.com orcid.org/0000-0001-7199-2578 Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Neurology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China Department of Neurology and Neurological Rehabilitation, Shanghai Yangzhi Rehabilitation Hospital, School of Medicine, Tongji University, Shanghai, China Shanghai Clinical Research Center for Aging and Medicine, Shanghai, China Correspondence to: Ling-Jing Jin, Department of Neurology and Neurological Rehabilitation, Shanghai Yangzhi Rehabilitation Hospital, School of Medicine, Tongji University, Shanghai, 200092, China; E-mail: lingjingjin@163.comSearch for more papers by this author Li-Xi Li MD, Li-Xi Li MD Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Neurology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China These two authors contributed equally to this work.Search for more papers by this authorJie-Hong Huang MBBS, Jie-Hong Huang MBBS Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Neurology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China These two authors contributed equally to this work.Search for more papers by this authorLi-Zhen Pan MD, Li-Zhen Pan MD Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Neurology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, ChinaSearch for more papers by this authorXiao-Long Zhang MD, Xiao-Long Zhang MD Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Neurology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, ChinaSearch for more papers by this authorYou-Gui Pan MD, You-Gui Pan MD Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Neurology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, ChinaSearch for more papers by this authorLing-Jing Jin MD, Corresponding Author Ling-Jing Jin MD lingjingjin@163.com orcid.org/0000-0001-7199-2578 Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Department of Neurology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China Department of Neurology and Neurological Rehabilitation, Shanghai Yangzhi Rehabilitation Hospital, School of Medicine, Tongji University, Shanghai, China Shanghai Clinical Research Center for Aging and Medicine, Shanghai, China Correspondence to: Ling-Jing Jin, Department of Neurology and Neurological Rehabilitation, Shanghai Yangzhi Rehabilitation Hospital, School of Medicine, Tongji University, Shanghai, 200092, China; E-mail: lingjingjin@163.comSearch for more papers by this author First published: 01 March 2022 https://doi.org/10.1002/mds.28965 Relevant conflicts of interest/financial disclosures:: All authors declare that there are no financial disclosures or any conflicts of interest. Funding agencies:: This work was supported by the National Key R&D Program of China (2018YFC1314700), Shanghai Science and Technology Committee Rising-Star Program (19QA1407900), the National Natural Science Foundation of China (81971074), and the Program of Shanghai Academic Research Leader (20XD1403400). Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Supporting Information Filename Description mds28965-sup-0001-VideoS1.mp4MPEG-4 video, 1.7 MB Video S1:The female patient with the p.C140* variant in PCDHGB1. mds28965-sup-0002-VideoS2.mp4MPEG-4 video, 9.4 MB Video S2:The male patient with the p.N738Tfs*29 variant in PCDHGB1. mds28965-sup-0003-Supinfo.docxWord 2007 document , 46.7 KB Appendix S1: Supporting Information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. Volume37, Issue5May 2022Pages 1099-1101 RelatedInformation