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In addition, this evolutionarily conserved protein complex plays an integral role in DNA replication, DNA repair, and the regulation of transcription. The core complex is composed of four subunits: RAD21, SMC1A, SMC3, and STAG1\/2. Mutations in these proteins have been implicated in human developmental disorders collectively termed \u201ccohesinopathies.\u201d<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using clinical exome sequencing, we have previously identified three female cases with heterozygous <jats:italic>STAG2<\/jats:italic> mutations and overlapping syndromic phenotypes. Subsequently, a familial missense variant was identified in five male family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We now present the case of a 4\u2010year\u2010old male with developmental delay, failure to thrive, short stature, and polydactyly with a likely pathogenic <jats:italic>STAG2<\/jats:italic> de novo missense hemizygous variant, c.3027A&gt;T, p.Lys1009Asn. Furthermore, we compare the phenotypes of the four previously reported <jats:italic>STAG2<\/jats:italic> variants with our case.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We conclude that mutations in <jats:italic>STAG2<\/jats:italic> cause a novel constellation of sex\u2010specific cohesinopathy\u2010related phenotypes and are furthermore, essential for neurodevelopment, human growth, and behavioral development.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.501","type":"journal-article","created":{"date-parts":[[2018,11,17]],"date-time":"2018-11-17T05:09:45Z","timestamp":1542431385000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Mutations in <i>STAG2<\/i> cause an X\u2010linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males"],"prefix":"10.1002","volume":"7","author":[{"given":"Sureni V.","family":"Mullegama","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8634-0388","authenticated-orcid":false,"given":"Steven D.","family":"Klein","sequence":"additional","affiliation":[{"name":"Department of Human Genetics David Geffen School of Medicine University of California, Los Angeles  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca H.","family":"Signer","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics David Geffen School of Medicine University of California, Los Angeles  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"UCLA Clinical Genomics Center","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Vilain","sequence":"additional","affiliation":[{"name":"Department of Genomic and Precision Medicine Children\u2019s National Hospital  Washington District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6776-6949","authenticated-orcid":false,"given":"Julian A.","family":"Martinez\u2010Agosto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics David Geffen School of Medicine University of California, Los Angeles  Los Angeles California"},{"name":"Division of Medical Genetics, Department of Pediatrics David Geffen School of Medicine University of California, Los Angeles  Los Angeles California"},{"name":"UCLA Clinical Genomics Center, David Geffen School of Medicine University of California  Los Angeles, Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagrm.2013.11.002"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S34457"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32858"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738040190070501"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-6-4"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200906075"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.10.005"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv414"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.14604"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12567"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2008.08.010"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38207"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33439"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35307"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_18_1","unstructured":"Schrodinger L. 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