{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:53:50Z","timestamp":1791928430718,"version":"4.3.4"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2021,11,8]],"date-time":"2021-11-08T00:00:00Z","timestamp":1636329600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,11,8]],"date-time":"2021-11-08T00:00:00Z","timestamp":1636329600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000065","name":"U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS107428"],"award-info":[{"award-number":["R01NS107428"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2022,2]]},"DOI":"10.1038\/s41431-021-00968-w","type":"journal-article","created":{"date-parts":[[2021,11,8]],"date-time":"2021-11-08T07:03:33Z","timestamp":1636355013000},"page":"243-247","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability"],"prefix":"10.1038","volume":"30","author":[{"given":"Amama","family":"Ghaffar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9333-2327","authenticated-orcid":false,"given":"Faiza","family":"Rasheed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Rashid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2153-9254","authenticated-orcid":false,"given":"Hans","family":"van Bokhoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2914-4502","authenticated-orcid":false,"given":"Zubair M.","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheikh","family":"Riazuddin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8645-4761","authenticated-orcid":false,"given":"Saima","family":"Riazuddin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,11,8]]},"reference":[{"key":"968_CR1","doi-asserted-by":"publisher","first-page":"2493","DOI":"10.1093\/nar\/21.10.2493","volume":"21","author":"V Laudet","year":"1993","unstructured":"Laudet V, Stehelin D, Clevers H. Ancestry and diversity of the HMG box superfamily. Nucleic Acids Res. 1993;21:2493\u2013501.","journal-title":"Nucleic Acids Res"},{"key":"968_CR2","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1016\/j.gene.2003.12.008","volume":"328","author":"P Koopman","year":"2004","unstructured":"Koopman P, Schepers G, Brenner S, Venkatesh B. Origin and diversity of the SOX transcription factor gene family: genome-wide analysis in Fugu rubripes. Gene. 2004;328:177\u201386.","journal-title":"Gene"},{"key":"968_CR3","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1016\/j.ajhg.2018.12.014","volume":"104","author":"A Zawerton","year":"2019","unstructured":"Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, et al. De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism. Am J Hum Genet. 2019;104:246\u201359.","journal-title":"Am J Hum Genet"},{"key":"968_CR4","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1016\/S0959-437X(02)00323-4","volume":"12","author":"M Wilson","year":"2002","unstructured":"Wilson M, Koopman P. Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators. Curr Opin Genet Dev. 2002;12:441\u20136.","journal-title":"Curr Opin Genet Dev"},{"key":"968_CR5","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/humu.23666","volume":"40","author":"EM Richard","year":"2019","unstructured":"Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, et al. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat. 2019;40:53\u201372.","journal-title":"Hum Mutat"},{"key":"968_CR6","doi-asserted-by":"publisher","first-page":"1604","DOI":"10.1038\/mp.2016.109","volume":"22","author":"S Riazuddin","year":"2017","unstructured":"Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla D, et al. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Mol Psychiatry. 2017;22:1604\u201314.","journal-title":"Mol Psychiatry"},{"key":"968_CR7","doi-asserted-by":"publisher","first-page":"10629","DOI":"10.1523\/JNEUROSCI.1663-15.2015","volume":"35","author":"C Chen","year":"2015","unstructured":"Chen C, Lee GA, Pourmorady A, Sock E, Donoghue MJ. Orchestration of neuronal differentiation and progenitor pool expansion in the developing cortex by SoxC genes. J Neurosci. 2015;35:10629\u201342.","journal-title":"J Neurosci"},{"key":"968_CR8","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1002\/(SICI)1097-0177(199710)210:2<79::AID-AJA1>3.0.CO;2-6","volume":"210","author":"M Hargrave","year":"1997","unstructured":"Hargrave M, Wright E, Kun J, Emery J, Cooper L, Koopman P. Expression of the Sox11 gene in mouse embryos suggests roles in neuronal maturation and epithelio\u2010mesenchymal induction. Developmental Dyn. 1997;210:79\u201386.","journal-title":"Developmental Dyn"},{"key":"968_CR9","doi-asserted-by":"publisher","first-page":"458","DOI":"10.3389\/fnins.2014.00458","volume":"8","author":"T Ohshima","year":"2015","unstructured":"Ohshima T. Neuronal migration and protein kinases. Front Neurosci. 2015;8:458.","journal-title":"Front Neurosci"},{"key":"968_CR10","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41467-018-07882-8","volume":"10","author":"X Lv","year":"2019","unstructured":"Lv X, Ren S-Q, Zhang X-J, Shen Z, Ghosh T, Xianyu A, et al. TBR2 coordinates neurogenesis expansion and precise microcircuit organization via Protocadherin 19 in the mammalian cortex. Nat Commun. 2019;10:1\u201315.","journal-title":"Nat Commun"},{"key":"968_CR11","first-page":"1","volume":"12","author":"Y Cong","year":"2021","unstructured":"Cong Y, So V, Tijssen MA, Verbeek DS, Reggiori F, Mauthe M. WDR45, one gene associated with multiple neurodevelopmental disorders. Autophagy. 2021;12:1\u201316.","journal-title":"Autophagy"},{"key":"968_CR12","doi-asserted-by":"publisher","first-page":"4675","DOI":"10.1128\/MCB.00338-08","volume":"28","author":"M Hoser","year":"2008","unstructured":"Hoser M, Potzner MR, Koch JM, B\u00f6sl MR, Wegner M, Sock E. Sox12 deletion in the mouse reveals nonreciprocal redundancy with the related Sox4 and Sox11 transcription factors. Mol Cell Biol. 2008;28:4675\u201387.","journal-title":"Mol Cell Biol"},{"key":"968_CR13","doi-asserted-by":"publisher","first-page":"3101","DOI":"10.1093\/nar\/gkn162","volume":"36","author":"P Dy","year":"2008","unstructured":"Dy P, Penzo-Mendez A, Wang H, Pedraza CE, Macklin WB, Lefebvre V. The three SoxC proteins\u2014Sox4, Sox11 and Sox12\u2014exhibit overlapping expression patterns and molecular properties. Nucleic Acids Res. 2008;36:3101\u201317.","journal-title":"Nucleic Acids Res"},{"key":"968_CR14","doi-asserted-by":"publisher","first-page":"3347","DOI":"10.1093\/nar\/29.16.3347","volume":"29","author":"A Murakami","year":"2001","unstructured":"Murakami A, Ishida S, Thurlow J, Revest J-M, Dickson C. SOX6 binds CtBP2 to repress transcription from the Fgf-3 promoter. Nucleic Acids Res. 2001;29:3347\u201355.","journal-title":"Nucleic Acids Res"},{"key":"968_CR15","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/S0014-5793(01)02407-3","volume":"496","author":"OJ Marshall","year":"2001","unstructured":"Marshall OJ, Harley VR. Identification of an interaction between SOX9 and HSP70. FEBS Lett. 2001;496:75\u201380.","journal-title":"FEBS Lett"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41431-021-00968-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-021-00968-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-021-00968-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,8]],"date-time":"2022-02-08T00:04:55Z","timestamp":1644278695000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41431-021-00968-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,8]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["968"],"URL":"https:\/\/doi.org\/10.1038\/s41431-021-00968-w","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,8]]},"assertion":[{"value":"28 May 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 August 2021","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 September 2021","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 November 2021","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This study was approved by the Institutional Review Boards (IRB) at the University of Maryland Baltimore, USA, and the Centre of Excellence in Molecular Biology (CEMB), University of The Punjab, Lahore, Pakistan.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}}]}}