Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder
Abstract GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss, and tooth enamel hypoplasia. Although the pat...
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-01-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-023-00262-9 |
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| author | Rina Shimomura Tomoe Yanagishita Kumiko Ishiguro Minobu Shichiji Takatoshi Sato Keiko Shimojima Yamamoto Miho Nagata Yasuki Ishihara Yohei Miyashita Keiko Ishigaki Satoru Nagata Yoshihiro Asano Toshiyuki Yamamoto |
| author_facet | Rina Shimomura Tomoe Yanagishita Kumiko Ishiguro Minobu Shichiji Takatoshi Sato Keiko Shimojima Yamamoto Miho Nagata Yasuki Ishihara Yohei Miyashita Keiko Ishigaki Satoru Nagata Yoshihiro Asano Toshiyuki Yamamoto |
| author_sort | Rina Shimomura |
| collection | DOAJ |
| description | Abstract GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss, and tooth enamel hypoplasia. Although the patient exhibited severe neurodevelopmental delay, other clinical features of ODDD, including limb anomalies, were mild. This may be due to differences in the mosaic ratios in different organs. |
| format | Article |
| id | doaj-art-6f129f5d0b704eb3a0575142992aadfe |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-6f129f5d0b704eb3a0575142992aadfe2025-01-19T12:15:58ZengNature Publishing GroupHuman Genome Variation2054-345X2024-01-011111410.1038/s41439-023-00262-9Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorderRina Shimomura0Tomoe Yanagishita1Kumiko Ishiguro2Minobu Shichiji3Takatoshi Sato4Keiko Shimojima Yamamoto5Miho Nagata6Yasuki Ishihara7Yohei Miyashita8Keiko Ishigaki9Satoru Nagata10Yoshihiro Asano11Toshiyuki Yamamoto12Department of Pediatrics, Tokyo Women’s Medical UniversityDepartment of Pediatrics, Tokyo Women’s Medical UniversityDepartment of Pediatrics, Tokyo Women’s Medical UniversityDepartment of Pediatrics, Tokyo Women’s Medical UniversityDepartment of Pediatrics, Tokyo Women’s Medical UniversityTransfusion Medicine and Cell Processing, 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 Pediatrics, Tokyo Women’s Medical UniversityDepartment of Pediatrics, Tokyo Women’s Medical UniversityDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDivision of Gene Medicine, Graduate School of Medical Science, Tokyo Women’s Medical UniversityAbstract GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss, and tooth enamel hypoplasia. Although the patient exhibited severe neurodevelopmental delay, other clinical features of ODDD, including limb anomalies, were mild. This may be due to differences in the mosaic ratios in different organs.https://doi.org/10.1038/s41439-023-00262-9 |
| spellingShingle | Rina Shimomura Tomoe Yanagishita Kumiko Ishiguro Minobu Shichiji Takatoshi Sato Keiko Shimojima Yamamoto Miho Nagata Yasuki Ishihara Yohei Miyashita Keiko Ishigaki Satoru Nagata Yoshihiro Asano Toshiyuki Yamamoto Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder Human Genome Variation |
| title | Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder |
| title_full | Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder |
| title_fullStr | Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder |
| title_full_unstemmed | Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder |
| title_short | Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder |
| title_sort | rare mosaic variant of gja1 in a patient with a neurodevelopmental disorder |
| url | https://doi.org/10.1038/s41439-023-00262-9 |
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