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Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived from pathogenic variants of the B-cell leukemia/lymphoma 11B gene (BCL11B). Several variants have been reported to date. Here, through comprehensive geno...
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9722650/ https://www.ncbi.nlm.nih.gov/pubmed/36470856 http://dx.doi.org/10.1038/s41439-022-00220-x |
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| author | Eto, Kaoru Machida, Osamu Yanagishita, Tomoe Shimojima Yamamoto, Keiko Chiba, Kentaro Aihara, Yasuo Hasegawa, Yuuki Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Nagata, Satoru Yamamoto, Toshiyuki |
| author_facet | Eto, Kaoru Machida, Osamu Yanagishita, Tomoe Shimojima Yamamoto, Keiko Chiba, Kentaro Aihara, Yasuo Hasegawa, Yuuki Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Nagata, Satoru Yamamoto, Toshiyuki |
| author_sort | Eto, Kaoru |
| collection | PubMed |
| description | Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived from pathogenic variants of the B-cell leukemia/lymphoma 11B gene (BCL11B). Several variants have been reported to date. Here, through comprehensive genomic analysis, a novel BCL11B truncation variant, NM_138576.4(BCL11B_v001): c.2439_2452dup [p.(His818Argfs*31)], was identified in a Japanese male patient with developmental delay, distinctive features, and early craniosynostosis. |
| format | Online Article Text |
| id | pubmed-9722650 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-97226502022-12-07 Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis Eto, Kaoru Machida, Osamu Yanagishita, Tomoe Shimojima Yamamoto, Keiko Chiba, Kentaro Aihara, Yasuo Hasegawa, Yuuki Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Nagata, Satoru Yamamoto, Toshiyuki Hum Genome Var Data Report Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived from pathogenic variants of the B-cell leukemia/lymphoma 11B gene (BCL11B). Several variants have been reported to date. Here, through comprehensive genomic analysis, a novel BCL11B truncation variant, NM_138576.4(BCL11B_v001): c.2439_2452dup [p.(His818Argfs*31)], was identified in a Japanese male patient with developmental delay, distinctive features, and early craniosynostosis. Nature Publishing Group UK 2022-12-05 /pmc/articles/PMC9722650/ /pubmed/36470856 http://dx.doi.org/10.1038/s41439-022-00220-x Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Data Report Eto, Kaoru Machida, Osamu Yanagishita, Tomoe Shimojima Yamamoto, Keiko Chiba, Kentaro Aihara, Yasuo Hasegawa, Yuuki Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Nagata, Satoru Yamamoto, Toshiyuki Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis |
| title | Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis |
| title_full | Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis |
| title_fullStr | Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis |
| title_full_unstemmed | Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis |
| title_short | Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis |
| title_sort | novel bcl11b truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9722650/ https://www.ncbi.nlm.nih.gov/pubmed/36470856 http://dx.doi.org/10.1038/s41439-022-00220-x |
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