{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T23:23:11Z","timestamp":1770074591224,"version":"3.49.0"},"reference-count":47,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T00:00:00Z","timestamp":1580860800000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003395","name":"Shanghai Municipal Education Commission","doi-asserted-by":"publisher","award":["20161401"],"award-info":[{"award-number":["20161401"]}],"id":[{"id":"10.13039\/501100003395","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To describe the clinical and genetic features of two patients with different phenotypes due to various Dynactin 1 (DCTN1) gene mutations and further explore the phenotype\u2013genotype relationship.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patient 1 is a 23\u2010year\u2010old man with congenital foot deformity and life\u2010long distal muscle weakness and atrophy. Patient 2 is a 48\u2010year\u2010old woman with adult\u2010onset progressive weakness, lower limbs atrophy, and pyramid bundle signs. Electrophysiology test showed normal nerve conduction velocity of both patients and neurogenic changes in needle electromyography. Open sural nerve biopsy for Patient 1 showed slight loss of myelinated nerve fibers. Both patients were performed with whole\u2010exome sequencing followed by functional study of identified variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two mutations in <jats:italic>DCTN1<\/jats:italic> gene were identified in Patient 1 (c.626dupC) and Patient 2 (c.3823C&gt;T), respectively. In vitro, the wild type mostly located in cytoplasm and colocalized with \u03b1\u2010tubulin. However, c.626dupC tended to be trapped into nuclear and the c.3823C&gt;T formed cytoplasmic aggregates, both losing colocalization with \u03b1\u2010tubulin. Western blotting showed a truncated mutant with less molecular weight of c.626dupC was expressed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>We identify two novel <jats:italic>DCTN1<\/jats:italic> mutations causing different phenotypes: (1) early\u2010onset distal hereditary motor neuropathy plus congenital foot malformation and (2) amyotrophic lateral sclerosis, respectively. We provide the initial evidence that foot developmental deficiency probably arises from subcellular localizing abnormality of Dynactin 1, revealing <jats:italic>DCTN1<\/jats:italic>\u2010related spectrum is still expanding.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.50985","type":"journal-article","created":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T15:11:41Z","timestamp":1580915501000},"page":"200-209","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["New phenotype of DCTN1\u2010related spectrum: early\u2010onset dHMN plus congenital foot deformity"],"prefix":"10.1002","volume":"7","author":[{"given":"Wo\u2010Tu","family":"Tian","sequence":"first","affiliation":[{"name":"Department of Neurology Rui Jin Hospital Shanghai Jiao Tong University School of Medicine Shanghai 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