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The objective of this study was to find the gene responsible for mandibular prognathism. Whole exome sequencing analysis of a Thai family (family 1) identified the ADAMTSL1 c.176C&gt;A variant as the potential defect. We cross\u2010checked our exome data of 215 people for rare variants in ADAMTSL1 and found that the c.670C&gt;G variant was associated with mandibular prognathism in families 2 and 4. Mutation analysis of <jats:italic>ADAMTSL1<\/jats:italic> in 79 unrelated patients revealed the c.670C&gt;G variant was also found in family 3. We hypothesize that mutations in <jats:italic>ADAMTSL1<\/jats:italic> cause failure to cleave aggrecan in the condylar cartilage, and that leads to overgrowth of the mandible. <jats:italic>Adamtsl1<\/jats:italic> is strongly expressed in the condensed mesenchymal cells of the mouse condyle, but not at the cartilage of the long bones. This explains why the patients with <jats:italic>ADAMTSL1<\/jats:italic> mutations had abnormal mandibles but normal long bones. This is the first report that mutations in <jats:italic>ADAMTSL1<\/jats:italic> are responsible for the pathogenesis of mandibular prognathism.<\/jats:p>","DOI":"10.1111\/cge.13519","type":"journal-article","created":{"date-parts":[[2019,2,4]],"date-time":"2019-02-04T06:53:38Z","timestamp":1549263218000},"page":"507-515","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["<i>ADAMTSL1<\/i> and mandibular prognathism"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9841-0881","authenticated-orcid":false,"given":"Piranit N.","family":"Kantaputra","sequence":"first","affiliation":[{"name":"Center of Excellence in Medical Genetics Research, Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry Chiang Mai University  Chiang Mai Thailand"},{"name":"Dentaland Clinic  Chiang Mai 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