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We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the <jats:italic>EBF2<\/jats:italic> gene (c.215C\u2009&gt;\u2009T; p.Ala72Val). This mutation is completely segregated with the disease phenotype in the family and is evolutionarily highly conserved among diverse vertebrates. Also, this mutation was predicted to be functionally damaging. These results support that missense mutation in the <jats:italic>EBF2<\/jats:italic> c.215C\u2009&gt;\u2009T (p.Ala72Val) is very likely to contribute to the pathogenesis of ARM in this family.<\/jats:p>","DOI":"10.1002\/ajmg.a.38722","type":"journal-article","created":{"date-parts":[[2018,4,28]],"date-time":"2018-04-28T07:36:39Z","timestamp":1524900999000},"page":"1632-1636","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A missense mutation in <i>EBF2<\/i> was segregated with imperforate anus in a family across three generations"],"prefix":"10.1002","volume":"176","author":[{"given":"Shinn Young","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Microbiology, Integrated Research Center for Genome Polymorphism, Precision Medicine Research Center College of Medicine, The Catholic University of Korea Seoul Korea"},{"name":"Department of Surgery Seoul St. Mary's Hospital, College of Medicine, 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