Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis
Abstract 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 comprehen...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2022-12-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-022-00220-x |
| _version_ | 1811301679858974720 |
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| author | Kaoru Eto Osamu Machida Tomoe Yanagishita Keiko Shimojima Yamamoto Kentaro Chiba Yasuo Aihara Yuuki Hasegawa Miho Nagata Yasuki Ishihara Yohei Miyashita Yoshihiro Asano Satoru Nagata Toshiyuki Yamamoto |
| author_facet | Kaoru Eto Osamu Machida Tomoe Yanagishita Keiko Shimojima Yamamoto Kentaro Chiba Yasuo Aihara Yuuki Hasegawa Miho Nagata Yasuki Ishihara Yohei Miyashita Yoshihiro Asano Satoru Nagata Toshiyuki Yamamoto |
| author_sort | Kaoru Eto |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-13T07:13:07Z |
| format | Article |
| id | doaj.art-29ef0b91f46845918ebc8ee21f3bec24 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-04-13T07:13:07Z |
| publishDate | 2022-12-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-29ef0b91f46845918ebc8ee21f3bec242022-12-22T02:56:49ZengNature Publishing GroupHuman Genome Variation2054-345X2022-12-01911510.1038/s41439-022-00220-xNovel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosisKaoru Eto0Osamu Machida1Tomoe Yanagishita2Keiko Shimojima Yamamoto3Kentaro Chiba4Yasuo Aihara5Yuuki Hasegawa6Miho Nagata7Yasuki Ishihara8Yohei Miyashita9Yoshihiro Asano10Satoru Nagata11Toshiyuki Yamamoto12Department of Pediatrics, Tokyo Women’s Medical UniversityDepartment of Pediatrics, Tokyo Women’s Medical UniversityDepartment of Pediatrics, Tokyo Women’s Medical UniversityDepartment of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical UniversityDepartment of Neurosurgery, Tokyo Women’s Medical UniversityDepartment of Neurosurgery, Tokyo Women’s Medical UniversityDepartment of Plastic and Reconstructive Surgery, Tokyo Women’s Medical UniversityDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Pediatrics, Tokyo Women’s Medical UniversityDivision of Gene Medicine, Tokyo Women’s Medical University Graduate School of MedicineAbstract 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.https://doi.org/10.1038/s41439-022-00220-x |
| spellingShingle | Kaoru Eto Osamu Machida Tomoe Yanagishita Keiko Shimojima Yamamoto Kentaro Chiba Yasuo Aihara Yuuki Hasegawa Miho Nagata Yasuki Ishihara Yohei Miyashita Yoshihiro Asano Satoru Nagata Toshiyuki Yamamoto Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis Human Genome Variation |
| 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 |
| url | https://doi.org/10.1038/s41439-022-00220-x |
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