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A novel CUL4B splice site variant in a young male exhibiting less pronounced features
Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in CUL4B, which was s...
| 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/PMC6804535/ https://www.ncbi.nlm.nih.gov/pubmed/31645981 http://dx.doi.org/10.1038/s41439-019-0074-6 |
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| author | Nakamura, Yuji Okuno, Yusuke Muramatsu, Hideki Kawai, Tomoko Satou, Kazuhito Ieda, Daisuke Hori, Ikumi Ohashi, Kei Negishi, Yutaka Hattori, Ayako Takahashi, Yoshiyuki Kojima, Seiji Saitoh, Shinji |
| author_facet | Nakamura, Yuji Okuno, Yusuke Muramatsu, Hideki Kawai, Tomoko Satou, Kazuhito Ieda, Daisuke Hori, Ikumi Ohashi, Kei Negishi, Yutaka Hattori, Ayako Takahashi, Yoshiyuki Kojima, Seiji Saitoh, Shinji |
| author_sort | Nakamura, Yuji |
| collection | PubMed |
| description | Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in CUL4B, which was subsequently confirmed to disrupt mRNA splicing. The current patient showed less pronounced phenotypic features compared with the previously reported cases. This report, therefore, provides evidence of genotype–phenotype correlations in CUL4B-related disorders. |
| format | Online Article Text |
| id | pubmed-6804535 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-68045352019-10-23 A novel CUL4B splice site variant in a young male exhibiting less pronounced features Nakamura, Yuji Okuno, Yusuke Muramatsu, Hideki Kawai, Tomoko Satou, Kazuhito Ieda, Daisuke Hori, Ikumi Ohashi, Kei Negishi, Yutaka Hattori, Ayako Takahashi, Yoshiyuki Kojima, Seiji Saitoh, Shinji Hum Genome Var Data Report Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in CUL4B, which was subsequently confirmed to disrupt mRNA splicing. The current patient showed less pronounced phenotypic features compared with the previously reported cases. This report, therefore, provides evidence of genotype–phenotype correlations in CUL4B-related disorders. Nature Publishing Group UK 2019-09-04 /pmc/articles/PMC6804535/ /pubmed/31645981 http://dx.doi.org/10.1038/s41439-019-0074-6 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 Nakamura, Yuji Okuno, Yusuke Muramatsu, Hideki Kawai, Tomoko Satou, Kazuhito Ieda, Daisuke Hori, Ikumi Ohashi, Kei Negishi, Yutaka Hattori, Ayako Takahashi, Yoshiyuki Kojima, Seiji Saitoh, Shinji A novel CUL4B splice site variant in a young male exhibiting less pronounced features |
| title | A novel CUL4B splice site variant in a young male exhibiting less pronounced features |
| title_full | A novel CUL4B splice site variant in a young male exhibiting less pronounced features |
| title_fullStr | A novel CUL4B splice site variant in a young male exhibiting less pronounced features |
| title_full_unstemmed | A novel CUL4B splice site variant in a young male exhibiting less pronounced features |
| title_short | A novel CUL4B splice site variant in a young male exhibiting less pronounced features |
| title_sort | novel cul4b splice site variant in a young male exhibiting less pronounced features |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804535/ https://www.ncbi.nlm.nih.gov/pubmed/31645981 http://dx.doi.org/10.1038/s41439-019-0074-6 |
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