{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T12:56:59Z","timestamp":1790081819138,"version":"4.0.1"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,6,25]],"date-time":"2015-06-25T00:00:00Z","timestamp":1435190400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>The <jats:italic>SOX5<\/jats:italic> haploinsufficiency syndrome is characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. The smallest deletion encompassed only one gene, <jats:italic>SOX5<\/jats:italic> (OMIM 604975), indicating that haploinsufficiency of <jats:italic>SOX5<\/jats:italic> contributes to neuro developmental delay. Although multiple deletions of the <jats:italic>SOX5<\/jats:italic> gene have been reported in patients, none are strictly intragenic point mutations. Here, we report the identification of a de novo loss of function variant in <jats:italic>SOX5<\/jats:italic> identified through whole exome sequencing. The proband presented with moderate developmental delay, bilateral optic atrophy, mildly dysmorphic features, and scoliosis, which correlates with the previously\u2010described <jats:italic>SOX5<\/jats:italic>\u2010associated phenotype. These results broaden the diagnostic spectrum of <jats:italic>SOX5<\/jats:italic>\u2010related intellectual disability. Furthermore it highlights the utility of exome sequencing in establishing an etiological basis in clinically and genetically heterogeneous conditions such as intellectual disability. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37221","type":"journal-article","created":{"date-parts":[[2015,6,25]],"date-time":"2015-06-25T13:03:11Z","timestamp":1435237391000},"page":"2548-2554","source":"Crossref","is-referenced-by-count":30,"title":["Exome sequencing expands the mechanism of SOX5\u2010associated intellectual disability: A case presentation with review of sox\u2010related disorders"],"prefix":"10.1002","volume":"167","author":[{"given":"Addie","family":"Nesbitt","sequence":"first","affiliation":[{"name":"Division of Genomic Diagnostics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth J.","family":"Bhoj","sequence":"additional","affiliation":[{"name":"Division of 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