We report a patient with autism and cleft lip and palate carrying a de novo heterozygous AUTS2 mutation, c.1464_1467del ACTC (p.Tyr488*). Although the causal relationship between cleft lip and palate and this mutation is unclear, this case report may expand the clinical phenotype of AUTS2 syndrome.
Keywords: AUTS2; autism spectrum disorder; cleft lip and palate; exon 8.
© 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.