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A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
Phosphatase and tensin homolog (PTEN) plays an important role in tumor suppression. A germline mutation in the PTEN gene induces not only PTEN hamartoma tumor syndrome, including Cowden syndrome, but also macrocephaly/autism syndrome. Here, we describe a boy with macrocephaly/autism syndrome harbori...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531540/ https://www.ncbi.nlm.nih.gov/pubmed/31149344 http://dx.doi.org/10.1038/s41439-019-0056-8 |
| _version_ | 1783420855956537344 |
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| author | Ueno, Yuichi Enokizono, Takashi Fukushima, Hiroko Ohto, Tatsuyuki Imagawa, Kazuo Tanaka, Mai Sakai, Aiko Suzuki, Hisato Uehara, Tomoko Takenouchi, Toshiki Kosaki, Kenjiro Takada, Hidetoshi |
| author_facet | Ueno, Yuichi Enokizono, Takashi Fukushima, Hiroko Ohto, Tatsuyuki Imagawa, Kazuo Tanaka, Mai Sakai, Aiko Suzuki, Hisato Uehara, Tomoko Takenouchi, Toshiki Kosaki, Kenjiro Takada, Hidetoshi |
| author_sort | Ueno, Yuichi |
| collection | PubMed |
| description | Phosphatase and tensin homolog (PTEN) plays an important role in tumor suppression. A germline mutation in the PTEN gene induces not only PTEN hamartoma tumor syndrome, including Cowden syndrome, but also macrocephaly/autism syndrome. Here, we describe a boy with macrocephaly/autism syndrome harboring a novel missense heterozygous PTEN mutation, c.959T>C (p.Leu320Ser). Interestingly, a previously reported nonsense mutation resulting in p.Leu320X was found in Cowden syndrome patients. Our case may be suggestive of a genotype-phenotype correlation. |
| format | Online Article Text |
| id | pubmed-6531540 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-65315402019-05-30 A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay Ueno, Yuichi Enokizono, Takashi Fukushima, Hiroko Ohto, Tatsuyuki Imagawa, Kazuo Tanaka, Mai Sakai, Aiko Suzuki, Hisato Uehara, Tomoko Takenouchi, Toshiki Kosaki, Kenjiro Takada, Hidetoshi Hum Genome Var Data Report Phosphatase and tensin homolog (PTEN) plays an important role in tumor suppression. A germline mutation in the PTEN gene induces not only PTEN hamartoma tumor syndrome, including Cowden syndrome, but also macrocephaly/autism syndrome. Here, we describe a boy with macrocephaly/autism syndrome harboring a novel missense heterozygous PTEN mutation, c.959T>C (p.Leu320Ser). Interestingly, a previously reported nonsense mutation resulting in p.Leu320X was found in Cowden syndrome patients. Our case may be suggestive of a genotype-phenotype correlation. Nature Publishing Group UK 2019-05-23 /pmc/articles/PMC6531540/ /pubmed/31149344 http://dx.doi.org/10.1038/s41439-019-0056-8 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Data Report Ueno, Yuichi Enokizono, Takashi Fukushima, Hiroko Ohto, Tatsuyuki Imagawa, Kazuo Tanaka, Mai Sakai, Aiko Suzuki, Hisato Uehara, Tomoko Takenouchi, Toshiki Kosaki, Kenjiro Takada, Hidetoshi A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay |
| title | A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay |
| title_full | A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay |
| title_fullStr | A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay |
| title_full_unstemmed | A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay |
| title_short | A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay |
| title_sort | novel missense pten mutation identified in a patient with macrocephaly and developmental delay |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531540/ https://www.ncbi.nlm.nih.gov/pubmed/31149344 http://dx.doi.org/10.1038/s41439-019-0056-8 |
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