{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T05:23:28Z","timestamp":1777353808448,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T00:00:00Z","timestamp":1611100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004061","name":"Oesterreichische Nationalbank","doi-asserted-by":"publisher","award":["17968"],"award-info":[{"award-number":["17968"]}],"id":[{"id":"10.13039\/501100004061","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The epileptic encephalopathies display extensive locus and allelic heterogeneity. Biallelic truncating <jats:italic>DOCK7<\/jats:italic> variants were recently reported in five children with early\u2010onset epilepsy, intellectual disability, and cortical blindness, indicating that DOCK7 deficiency causes a specific type of epileptic encephalopathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We identified 23\u2010 and 27\u2010year\u2010old siblings with the clinical pattern reported for DOCK7 deficiency, and conducted genome\u2010wide linkage analysis and WES. The consequences of a <jats:italic>DOCK7<\/jats:italic> variant were analyzed on the transcript and protein level in patients\u2019 fibroblasts.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel homozygous <jats:italic>DOCK7<\/jats:italic> frameshift variant, an intragenic tandem duplication of 124\u2010kb, previously missed by CGH array, in adult patients. Patients display atrophy in the occipital lobe and pontine hypoplasia with marked pontobulbar sulcus, and focal atrophy of occasional cerebellar folia is a novel finding. Recognizable dysmorphic features include normo\u2010brachycephaly, narrow forehead, low anterior and posterior hairlines, prominent ears, full cheeks, and long eyelashes. Our patients function on the level of 4\u2010year\u2010old children, never showed signs of regression, and seizures are largely controlled with multi\u2010pharmacotherapy. Studies of patients\u2019 fibroblasts showed nonsense\u2010mediated RNA decay and lack of DOCK7 protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>DOCK7 deficiency causes a definable clinical entity, a recognizable type of epileptic encephalopathy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1607","type":"journal-article","created":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T19:22:50Z","timestamp":1611170570000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Characteristic facial features and cortical blindness distinguish the <i>DOCK7<\/i>\u2010related epileptic encephalopathy"],"prefix":"10.1002","volume":"9","author":[{"given":"Edda","family":"Haberlandt","sequence":"first","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck Innsbruck Austria"},{"name":"Krankenhaus der Stadt Dornbirn Kinder\u2010 und Jugendheilkunde Dornbirn Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taras","family":"Valovka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanja","family":"Janjic","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology Medical University of Innsbruck Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios","family":"Blatsios","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Medical University of Innsbruck Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Karall","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7155-0315","authenticated-orcid":false,"given":"Andreas R.","family":"Janecke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck Innsbruck Austria"},{"name":"Division of Human Genetics Medical University of Innsbruck Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,20]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/CM9.0000000000000100"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12967"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0531-0"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737159.2019.1573144"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1002926"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201704157"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.04.012"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13709"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2019.01.010"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13797"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2006.07.020"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2018.03.129"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3171"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1607","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1607","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1607","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T18:16:42Z","timestamp":1693333002000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1607"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,20]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1002\/mgg3.1607"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1607","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,20]]},"assertion":[{"value":"2020-11-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1607"}}