A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

Clin Case Rep. 2019 Sep 24;7(11):2059-2063. doi: 10.1002/ccr3.2377. eCollection 2019 Nov.

Abstract

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.

Publication types

  • Case Reports