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We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149\u2013151], of an individual with 22q duplication and sex\u2010reversal syndrome. The subject's phenotype evolved to include peripheral and central demyelination, Waardenburg syndrome type IV, and Hirschsprung disease (PCWH; MIM 609136). DNA microarray analysis defined the duplication at 22q11.2q13, including <jats:italic>SOX10<\/jats:italic>. Sequencing of the coding region of <jats:italic>SOX10<\/jats:italic> did not reveal any mutations. Our data suggest that <jats:italic>SOX10<\/jats:italic> duplication can cause disorders of sex development and PCWH, supporting the hypothesis that <jats:italic>SOX10<\/jats:italic> toxic gain of function rather than dominant negative activity underlies PCWH.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38109","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T05:24:33Z","timestamp":1490246673000},"page":"1066-1070","source":"Crossref","is-referenced-by-count":30,"title":["22q11.2q13 duplication including <i>SOX10<\/i> causes sex\u2010reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease"],"prefix":"10.1002","volume":"173","author":[{"given":"Nadia","family":"Falah","sequence":"first","affiliation":[{"name":"Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics John P. Hussman Institute for Human Genomics Miller School of Medicine University of Miami and Jackson Memorial Hospital Miami Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer E.","family":"Posey","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willa","family":"Thorson","sequence":"additional","affiliation":[{"name":"Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics John P. Hussman Institute for Human Genomics Miller School of Medicine University of Miami and Jackson Memorial Hospital Miami Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Benke","sequence":"additional","affiliation":[{"name":"Memorial HealthCare System Hollywood Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Tekin","sequence":"additional","affiliation":[{"name":"Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics John P. Hussman Institute for Human Genomics Miller School of Medicine University of Miami and Jackson Memorial Hospital Miami Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brocha","family":"Tarshish","sequence":"additional","affiliation":[{"name":"Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics John P. 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