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Here, we describe three previously undiagnosed, unrelated patients with SAS who exhibited dental abnormalities, including multiple odontomas. Although isolated odontomas are common, multiple odontomas are rare. Individuals in families 1 and 3 underwent whole\u2010exome sequencing. Patient 2 and parents underwent targeted amplicon sequencing. On the basis of the hg19\/GRCh37 reference and the RefSeq mRNA NM_001172517, respective heterozygous mutations were found and validated in Patients 1, 2, and 3: a splice\u2010site mutation (chr2:g.200137396C\u2009&gt;\u2009T, c.1741\u20101G\u2009&gt;\u2009A), a nonsense mutation (chr2:g.200213750G\u2009&gt;\u2009A, c.847C\u2009&gt;\u2009T, p.R283*), and a frame\u2010shift mutations (chr2:g.200188589_200188590del, c.1478_1479del, p.Q493Rfs*19). All mutations occurred de novo. The mutations in Patients 1 and 3 were novel; the mutation in Patient 2 has been described previously. Tooth mesenchymal cells derived from Patient 2 showed diminished <jats:italic>SATB2<\/jats:italic> expression. Multiple odontomas were evident in the patients in this report; however, this has not been recognized previously as a SAS\u2010associated phenotype. We propose that multiple odontomas be considered as an occasional manifestation of SAS.<\/jats:p>","DOI":"10.1002\/ajmg.a.40670","type":"journal-article","created":{"date-parts":[[2018,12,21]],"date-time":"2018-12-21T14:54:44Z","timestamp":1545404084000},"page":"2614-2622","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Patients with SATB2\u2010associated syndrome exhibiting multiple odontomas"],"prefix":"10.1002","volume":"176","author":[{"given":"Takashi","family":"Kikuiri","sequence":"first","affiliation":[{"name":"Department of Dentistry for Children and Disabled Persons Hokkaido University Graduate School of Dental Medicine  Sapporo Hokkaido Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5050-2509","authenticated-orcid":false,"given":"Hiroyuki","family":"Mishima","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Nagasaki 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