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

Saki Saeki, Takashi Enokizono, Kazuo Imagawa, Hiroko Fukushima, Daigo Kajikawa, Aiko Sakai, Mai Tanaka, Tatsuyuki Ohto, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kosaki Kenjiro, Hidetoshi Takada

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)2059-2063
Number of pages5
JournalClinical Case Reports
Volume7
Issue number11
DOIs
Publication statusPublished - 2019 Nov 1

Keywords

  • AUTS2
  • autism spectrum disorder
  • cleft lip and palate
  • exon 8

ASJC Scopus subject areas

  • Medicine(all)

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    Saeki, S., Enokizono, T., Imagawa, K., Fukushima, H., Kajikawa, D., Sakai, A., Tanaka, M., Ohto, T., Suzuki, H., Uehara, T., Takenouchi, T., Kenjiro, K., & Takada, H. (2019). A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2. Clinical Case Reports, 7(11), 2059-2063. https://doi.org/10.1002/ccr3.2377