{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T19:31:33Z","timestamp":1770838293224,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T00:00:00Z","timestamp":1766361600000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>DYNC1H1<\/jats:italic>\n                      is a critical gene implicated in neurodevelopmental and neuromuscular disorders with overlapping and variable phenotypes that challenge diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and Results<\/jats:title>\n                    <jats:p>\n                      Whole exome sequencing in patients presenting with motor neuron disease symptoms and a predominant pattern of lower\u2010limb muscle weakness revealed pathogenic\n                      <jats:italic>DYNC1H1<\/jats:italic>\n                      variants. This expands the known phenotypic spectrum to include rare features such as scapular winging and camptocormia. Clinical evaluations of affected individuals revealed features consistent with SMA\u2010LED, reinforcing the role of\n                      <jats:italic>DYNC1H1<\/jats:italic>\n                      in neuromuscular disorders. A review of 208 published\n                      <jats:italic>DYNC1H1<\/jats:italic>\n                      variants highlighted significant clustering in the tail domain, primarily associated with neuromuscular conditions like SMA\u2010LED. Approximately 28% of variants exhibited overlapping neuromuscular and neurodevelopmental features, emphasizing the diagnostic challenges posed by phenotypic overlap. These findings underscore the necessity of comprehensive clinical and genetic evaluations to address the variability observed within families and improve genotype\u2013phenotype correlations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study reinforces the importance of\n                      <jats:italic>DYNC1H1<\/jats:italic>\n                      in motor neuron function and its pivotal role in neurodevelopmental and neuromuscular disease mechanisms. The integration of exome sequencing in clinical practice is essential for identifying rare and novel variants, enhancing diagnostic accuracy. We recommend incorporating\n                      <jats:italic>DYNC1H1<\/jats:italic>\n                      screening into diagnostic workflows to advance understanding and management of conditions with overlapping phenotypes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70163","type":"journal-article","created":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T10:57:26Z","timestamp":1766401046000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>DYNC1H1<\/i>\n                    in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders"],"prefix":"10.1002","volume":"13","author":[{"given":"Maryam","family":"Namdari","sequence":"first","affiliation":[{"name":"Medical Genetics Laboratory, Alzahra University Hospital Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Behnaz","family":"Ansari","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keivan","family":"Basiri","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elham Sadat","family":"Azimi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majid","family":"Hosseinzadeh","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Alzahra University Hospital Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amir","family":"Bahreini","sequence":"additional","affiliation":[{"name":"Karyogen Medical Genetics Laboratory  Isfahan Iran"},{"name":"Department of Human Genetics, Graduate School of Public Health University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Narges","family":"Nouri","sequence":"additional","affiliation":[{"name":"Karyogen Medical Genetics Laboratory  Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Sedghi","sequence":"additional","affiliation":[{"name":"Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shirin","family":"Fattahpur","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Alzahra University Hospital Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9168-9223","authenticated-orcid":false,"given":"Mahsa M.","family":"Amoli","sequence":"additional","affiliation":[{"name":"Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular\u2010Cellular Sciences Institute Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8854-5213","authenticated-orcid":false,"given":"Homa","family":"Tajsharghi","sequence":"additional","affiliation":[{"name":"School of Health Science, Division Biomedicine and Translational Medicine University of Skovde  Skovde Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,22]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61729"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0224-8"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-0803-1"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.04.011"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.47246.001"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.07.002"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1590\/0004-282x-anp-2020-0429"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200087"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22491"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181ec800c"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182556c05"},{"key":"e_1_2_11_13_1","doi-asserted-by":"crossref","unstructured":"Li J. 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