Clinical Case Reports (Nov 2019)

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

DOI
https://doi.org/10.1002/ccr3.2377
Journal volume & issue
Vol. 7, no. 11
pp. 2059 – 2063

Abstract

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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.

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