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A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2
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.
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878208/ https://www.ncbi.nlm.nih.gov/pubmed/31788251 http://dx.doi.org/10.1002/ccr3.2377 |
| _version_ | 1783473472990609408 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Saeki, Saki |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-6878208 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-68782082019-11-29 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 Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-09-24 /pmc/articles/PMC6878208/ /pubmed/31788251 http://dx.doi.org/10.1002/ccr3.2377 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Case Reports 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 |
| title | A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2
|
| title_full | A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2
|
| title_fullStr | A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2
|
| title_full_unstemmed | A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2
|
| title_short | A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2
|
| title_sort | case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of auts2 |
| topic | Case Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878208/ https://www.ncbi.nlm.nih.gov/pubmed/31788251 http://dx.doi.org/10.1002/ccr3.2377 |
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