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Previous clinical and animal studies have found that intragenic pathogenic variant or haploinsufficiency in the\n                    <jats:italic>SOX11<\/jats:italic>\n                    gene could cause inner ear malformation, but no studies to date have documented the external ear malformation caused by\n                    <jats:italic>SOX11<\/jats:italic>\n                    deficiency. Here, we reported a Chinese male with unilateral microtia and bilateral sensorineural deafness who showed CSS\u2010like manifestations, including dysmorphic facial features, impaired neurodevelopment, and fingers\/toes malformations. Using trio\u2010based whole\u2010exome sequencing, a de novo missense variant in\n                    <jats:italic>SOX11<\/jats:italic>\n                    (NM_003108.4: c.347A&gt;G, p.Y116C) was identified and classified as pathogenic variant as per American College of Medical Genetics guidelines. Moreover, a systematic search of the literature yielded 12 publications that provided data of 55\n                    <jats:italic>SOX11<\/jats:italic>\n                    intragenic variants affecting various protein\u2010coding regions of SOX11 protein. By quantitatively analyzing phenotypic spectrum information related to these 56\n                    <jats:italic>SOX11<\/jats:italic>\n                    variants (including our case), we found variants affecting different regions of SOX11 protein (high\u2010mobility group [HMG] domain and non\u2010HMG regions) appear to influence the phenotypic spectrum of organ malformations in CSS\u20109; variants altering the HMG domain were more likely to cause the widest range of organ anomalies. In summary, this is the first report of CSS with external ear malformation caused by pathogenic variant in\n                    <jats:italic>SOX11<\/jats:italic>\n                    , indicating that the\n                    <jats:italic>SOX11<\/jats:italic>\n                    gene may be not only essential for the development of the inner ear but also critical for the morphogenesis of the external ear. In addition, thorough clinical examination is recommended for patients who carry pathogenic\n                    <jats:italic>SOX11<\/jats:italic>\n                    variants that affect the HMG domain, as these variants may cause the widest range of organ anomalies underlying this condition.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63626","type":"journal-article","created":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T08:32:55Z","timestamp":1712651575000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of a novel phenotype of external ear deformity related to\n                    <scp>Coffin\u2013Siris<\/scp>\n                    syndrome\u20109 and literature review"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4127-7156","authenticated-orcid":false,"given":"Ruohao","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Children's Neuroendocrinology, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou Guangdong China"},{"name":"Children's Medical Center, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenting","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Research and Molecular Diagnostics, Sun Yat\u2010sen University Cancer Center Sun Yat\u2010sen University  Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pinggan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Children's Neuroendocrinology, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou Guangdong China"},{"name":"Children's Medical Center, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhe","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Children's Neuroendocrinology, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou Guangdong China"},{"name":"Children's Medical Center, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojuan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Diagnostics, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liyang","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Children's Neuroendocrinology, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou Guangdong China"},{"name":"Children's Medical Center, Sun Yat\u2010sen Memorial Hospital Sun Yat\u2010sen University  Guangzhou Guangdong 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