{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T08:03:02Z","timestamp":1780473782062,"version":"3.54.1"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T00:00:00Z","timestamp":1772150400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T00:00:00Z","timestamp":1772150400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100013302","name":"King Abdullah International Medical Research Center","doi-asserted-by":"publisher","award":["NRC23R\/177\/02"],"award-info":[{"award-number":["NRC23R\/177\/02"]}],"id":[{"id":"10.13039\/501100013302","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Cellular homeostasis is maintained by deubiquitination, which plays critical roles in DNA damage repair, cell cycle progression, signal transduction, transcriptional regulation, and autophagy. The deubiquitination (DUB) module within the Spt\u2010Ada\u2010Gcn5 acetyltransferase (SAGA) complex is encoded by the\n                    <jats:italic>ATXN7L3<\/jats:italic>\n                    gene. Disease\u2010causing variants in\n                    <jats:italic>ATXN7L3<\/jats:italic>\n                    have been associated with an autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, speech impairment, and distinctive facial dysmorphism, known as Harel\u2010Tora neurodevelopmental syndrome (OMIM #621377). In the present study we used whole\u2010genome sequencing (WGS), followed by Sanger sequencing, to identify the disease\u2010causing genetic variant. WGS identified a novel de novo nonsense variant, c.236G&gt;A (p.Trp79*), in the exon 4 of the\n                    <jats:italic>ATXN7L3<\/jats:italic>\n                    gene (NM_001382309.1) located on chromosome 17q21.31, segregating perfectly with the disease phenotype. Furthermore, RT\u2010qPCR revealed a marked reduction in\n                    <jats:italic>ATXN7L3<\/jats:italic>\n                    transcript levels in the affected individual, supporting its pathogenicity. 3D protein modeling of the mutated ATXN7L3 protein revealed substantial distortions in key secondary structural elements and loss of the C\u2010terminal of ATXN7L3. The present study expands the mutational spectrum of the\n                    <jats:italic>ATXN7L3<\/jats:italic>\n                    gene associated with HATONS, and helps to provide accurate genetic counseling. This will help in the management of future pregnancies within the affected family.\n                  <\/jats:p>","DOI":"10.1111\/cge.70156","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T23:12:15Z","timestamp":1773011535000},"page":"96-101","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel\n                    <i>ATXN7L3<\/i>\n                    De Novo Variant Underlies Harel\u2010Tora Neurodevelopmental Syndrome (\n                    <scp>HATONS<\/scp>\n                    ) With Pre\u2010Axial Polydactyly"],"prefix":"10.1111","volume":"110","author":[{"given":"Muhammad","family":"Umair","sequence":"first","affiliation":[{"name":"Medical Genomics Research Department King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH)  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaheer","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Department of Biosciences COMSATS University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arif","family":"Mahmood","sequence":"additional","affiliation":[{"name":"Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF) University of Campania \u2018Luigi Vanvitelli\u2019  Caserta Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hammal","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biosciences COMSATS University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Jawad","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biosciences COMSATS University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raja Hussain","family":"Ali","sequence":"additional","affiliation":[{"name":"Medical Genomics Research Department King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH)  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,27]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"StatPearls [Internet]","author":"Guo H. 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