A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2.
Saki SaekiTakashi EnokizonoKazuo ImagawaHiroko FukushimaDaigo KajikawaAiko SakaiMai TanakaTatsuyuki OhtoHisato SuzukiTomoko UeharaToshiki TakenouchiKosaki KenjiroHidetoshi TakadaPublished in: Clinical case reports (2019)
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.