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
JournalClinical Case Reports
DOIs
Publication statusAccepted/In press - 2019 Jan 1

Fingerprint

Cleft Lip
Cleft Palate
Exons
Mutation
Autistic Disorder
Phenotype
Autism Spectrum Disorder

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Saeki, S., Enokizono, T., Imagawa, K., Fukushima, H., Kajikawa, D., Sakai, A., ... Takada, H. (Accepted/In press). A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2. Clinical Case Reports. https://doi.org/10.1002/ccr3.2377

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2. / Saeki, Saki; Enokizono, Takashi; Imagawa, Kazuo; Fukushima, Hiroko; Kajikawa, Daigo; Sakai, Aiko; Tanaka, Mai; Ohto, Tatsuyuki; Suzuki, Hisato; Uehara, Tomoko; Takenouchi, Toshiki; Kenjiro, Kosaki; Takada, Hidetoshi.

In: Clinical Case Reports, 01.01.2019.

Research output: Contribution to journalArticle

Saeki, Saki ; Enokizono, Takashi ; Imagawa, Kazuo ; Fukushima, Hiroko ; Kajikawa, Daigo ; Sakai, Aiko ; Tanaka, Mai ; Ohto, Tatsuyuki ; Suzuki, Hisato ; Uehara, Tomoko ; Takenouchi, Toshiki ; Kenjiro, Kosaki ; Takada, Hidetoshi. / A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2. In: Clinical Case Reports. 2019.
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