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This syndrome is characterized by developmental delay, speech delay, and intellectual disability, but only about 60 affected individuals have been reported to date. We report a de novo likely pathogenic <jats:italic>CHD3<\/jats:italic> variant (c.5609G\u2009&gt;\u2009A; p. (Arg1870Gln)) in a young female presenting with features of Snijders Blok\u2010Campeau syndrome including speech delay, autism spectrum disorder, learning difficulties, characteristic facial dysmorphisms, and a feature not previously described in this syndrome, idiopathic central precocious puberty. Her puberty was controlled with monthly injections of a GnRH analogue. Targeted exome sequencing was negative for genes known to be responsible for central precocious puberty. Our case raises the possibility that variants in <jats:italic>CHD3<\/jats:italic> gene may also result in central precocious puberty. Strengthening this association could expand the phenotypic spectrum of the Snijders Blok\u2010Campeau syndrome and should be included in multigene panels for precocious puberty.<\/jats:p>","DOI":"10.1002\/ajmg.a.63096","type":"journal-article","created":{"date-parts":[[2022,12,24]],"date-time":"2022-12-24T11:57:50Z","timestamp":1671883070000},"page":"1065-1069","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A novel <i>CHD3<\/i> variant in a patient with central precocious puberty: Expanded phenotype of <scp>Snijders Blok\u2010Campeau<\/scp> syndrome?"],"prefix":"10.1002","volume":"191","author":[{"given":"Laure","family":"LeBreton","sequence":"first","affiliation":[{"name":"Centre de Formation M\u00e9dicale du Nouveau\u2010Brunswick Universit\u00e9 de Sherbrooke  Moncton New Brunswick Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric 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