A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of <i>AUTS2</i>.

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.

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.

Afiliación

Saeki S; Department of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Enokizono T; Department of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Imagawa K; Department of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Fukushima H; Department of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Kajikawa D; Department of Child Health, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Sakai A; Department of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Tanaka M; Department of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Ohto T; Department of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Suzuki H; Department of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Uehara T; Department of Child Health, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Takenouchi T; Center for Medical Genetics Keio University School of Medicine Tokyo Japan.
Kenjiro K; Center for Medical Genetics Keio University School of Medicine Tokyo Japan.
Takada H; Center for Medical Genetics Keio University School of Medicine Tokyo Japan.

Clin Case Rep ; 7(11): 2059-2063, 2019 Nov.

Article en En | MEDLINE | ID: mdl-31788251

ABSTRACT

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.

Palabras clave

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

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2019 Tipo del documento: Article