A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8
Abstract Cockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The characteristic symptoms appear during early childhood in most patients with CS. Herein, we report a mild case of CS with a novel start-l...
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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/s41439-024-00297-6 |
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| _version_ | 1832594888454045696 |
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| author | Taro Matsuoka Takeshi Yoshida Kengo Kora Naoko Yano Yoshihiro Taura Takashi Nakamura Takenori Tozawa Jun Mori Tomohiro Chiyonobu |
| author_facet | Taro Matsuoka Takeshi Yoshida Kengo Kora Naoko Yano Yoshihiro Taura Takashi Nakamura Takenori Tozawa Jun Mori Tomohiro Chiyonobu |
| author_sort | Taro Matsuoka |
| collection | DOAJ |
| description | Abstract Cockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The characteristic symptoms appear during early childhood in most patients with CS. Herein, we report a mild case of CS with a novel start-loss variant in ERCC8 that did not show the characteristic symptoms of CS during early childhood and exhibited sudden growth failure after the age of 10 years. |
| format | Article |
| id | doaj-art-26fe87f192c94ebb8114c4eeffd3ee2f |
| 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-26fe87f192c94ebb8114c4eeffd3ee2f2025-01-19T12:15:41ZengNature Publishing GroupHuman Genome Variation2054-345X2024-11-011111410.1038/s41439-024-00297-6A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8Taro Matsuoka0Takeshi Yoshida1Kengo Kora2Naoko Yano3Yoshihiro Taura4Takashi Nakamura5Takenori Tozawa6Jun Mori7Tomohiro Chiyonobu8Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of MedicineDepartment of Pediatrics, Kyoto University Graduate School of MedicineDepartment of Pediatrics, Kyoto University Graduate School of MedicineDepartment of Pediatrics, Kyoto University Graduate School of MedicineDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of MedicineDepartment of Otolaryngology-Head and Neck Surgery, Kyoto Prefectural University of MedicineDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of MedicineDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of MedicineDepartment of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of MedicineAbstract Cockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The characteristic symptoms appear during early childhood in most patients with CS. Herein, we report a mild case of CS with a novel start-loss variant in ERCC8 that did not show the characteristic symptoms of CS during early childhood and exhibited sudden growth failure after the age of 10 years.https://doi.org/10.1038/s41439-024-00297-6 |
| spellingShingle | Taro Matsuoka Takeshi Yoshida Kengo Kora Naoko Yano Yoshihiro Taura Takashi Nakamura Takenori Tozawa Jun Mori Tomohiro Chiyonobu A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8 Human Genome Variation |
| title | A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8 |
| title_full | A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8 |
| title_fullStr | A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8 |
| title_full_unstemmed | A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8 |
| title_short | A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8 |
| title_sort | mild case of cockayne syndrome with a novel start loss variant of ercc8 |
| url | https://doi.org/10.1038/s41439-024-00297-6 |
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