A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication
Abstract We present a case of suspected CDKL5 deficiency disorder (CDD) in which a novel intragenic multi-exonic duplication in the CDKL5 gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. This duplication was assumed to result in a shift of the...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-11-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00296-7 |
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| _version_ | 1832594896240771072 |
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| author | Takato Akiba Shino Shimada Katsumi Imai Satoru Takahashi |
| author_facet | Takato Akiba Shino Shimada Katsumi Imai Satoru Takahashi |
| author_sort | Takato Akiba |
| collection | DOAJ |
| description | Abstract We present a case of suspected CDKL5 deficiency disorder (CDD) in which a novel intragenic multi-exonic duplication in the CDKL5 gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. This duplication was assumed to result in a shift of the reading frame and the introduction of a premature stop codon. This case highlights the importance of careful phenotyping and comprehensive genetic testing to detect rare structural variants in CDD patients. |
| format | Article |
| id | doaj-art-45aa1851c0914bc2afb20fed996582af |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-45aa1851c0914bc2afb20fed996582af2025-01-19T12:15:37ZengNature Publishing GroupHuman Genome Variation2054-345X2024-11-011111310.1038/s41439-024-00296-7A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplicationTakato Akiba0Shino Shimada1Katsumi Imai2Satoru Takahashi3NHO Shizuoka Institute of Epilepsy and Neurological Disorders, National Epilepsy CenterNHO Shizuoka Institute of Epilepsy and Neurological Disorders, National Epilepsy CenterNHO Shizuoka Institute of Epilepsy and Neurological Disorders, National Epilepsy CenterDepartment of Pediatrics, Asahikawa Medical UniversityAbstract We present a case of suspected CDKL5 deficiency disorder (CDD) in which a novel intragenic multi-exonic duplication in the CDKL5 gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. This duplication was assumed to result in a shift of the reading frame and the introduction of a premature stop codon. This case highlights the importance of careful phenotyping and comprehensive genetic testing to detect rare structural variants in CDD patients.https://doi.org/10.1038/s41439-024-00296-7 |
| spellingShingle | Takato Akiba Shino Shimada Katsumi Imai Satoru Takahashi A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication Human Genome Variation |
| title | A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication |
| title_full | A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication |
| title_fullStr | A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication |
| title_full_unstemmed | A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication |
| title_short | A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication |
| title_sort | case of cdkl5 deficiency disorder with a novel intragenic multi exonic duplication |
| url | https://doi.org/10.1038/s41439-024-00296-7 |
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