Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant
Abstract Bryant-Li-Bhoj syndrome (BLBS; OMIM # 619720, 619721), caused by germline H3F3A and H3F3B variants encoding histone H3.3, is characterized by mild to severe developmental delay, intellectual disability, failure to thrive, muscle tone abnormalities, and dysmorphic facial features. Here, we p...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-12-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00303-x |
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| _version_ | 1832594909422419968 |
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| author | Moemi Hojo Noriko Soma Kei Yamada Yu Kobayashi Masaki Miura Hitomi Fujii Hiromi Nyuzuki Yosuke Nishio Taichi Oso Tomoo Ogi Takeshi Ikeuchi Jun Tohyama |
| author_facet | Moemi Hojo Noriko Soma Kei Yamada Yu Kobayashi Masaki Miura Hitomi Fujii Hiromi Nyuzuki Yosuke Nishio Taichi Oso Tomoo Ogi Takeshi Ikeuchi Jun Tohyama |
| author_sort | Moemi Hojo |
| collection | DOAJ |
| description | Abstract Bryant-Li-Bhoj syndrome (BLBS; OMIM # 619720, 619721), caused by germline H3F3A and H3F3B variants encoding histone H3.3, is characterized by mild to severe developmental delay, intellectual disability, failure to thrive, muscle tone abnormalities, and dysmorphic facial features. Here, we present a Japanese patient with a novel heterozygous p.A48G variant in H3F3A, displaying previously unrecognized symptoms of neonatal myoclonus. This case helps broaden the phenotypic spectrum of BLBS. |
| format | Article |
| id | doaj-art-752d6bc6326f40618290f8fd314d8838 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-752d6bc6326f40618290f8fd314d88382025-01-19T12:15:49ZengNature Publishing GroupHuman Genome Variation2054-345X2024-12-011111410.1038/s41439-024-00303-xNeonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variantMoemi Hojo0Noriko Soma1Kei Yamada2Yu Kobayashi3Masaki Miura4Hitomi Fujii5Hiromi Nyuzuki6Yosuke Nishio7Taichi Oso8Tomoo Ogi9Takeshi Ikeuchi10Jun Tohyama11Department of Child Neurology, National Hospital Organization Nishiniigata Chuo HospitalDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo HospitalDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo HospitalDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo HospitalDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo HospitalDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo HospitalCenter for Medical Genetics, Niigata University Medical and Dental HospitalDepartment of Pediatrics, Nagoya University Graduate School of MedicineDepartment of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya UniversityDepartment of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya UniversityCenter for Medical Genetics, Niigata University Medical and Dental HospitalDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo HospitalAbstract Bryant-Li-Bhoj syndrome (BLBS; OMIM # 619720, 619721), caused by germline H3F3A and H3F3B variants encoding histone H3.3, is characterized by mild to severe developmental delay, intellectual disability, failure to thrive, muscle tone abnormalities, and dysmorphic facial features. Here, we present a Japanese patient with a novel heterozygous p.A48G variant in H3F3A, displaying previously unrecognized symptoms of neonatal myoclonus. This case helps broaden the phenotypic spectrum of BLBS.https://doi.org/10.1038/s41439-024-00303-x |
| spellingShingle | Moemi Hojo Noriko Soma Kei Yamada Yu Kobayashi Masaki Miura Hitomi Fujii Hiromi Nyuzuki Yosuke Nishio Taichi Oso Tomoo Ogi Takeshi Ikeuchi Jun Tohyama Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant Human Genome Variation |
| title | Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant |
| title_full | Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant |
| title_fullStr | Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant |
| title_full_unstemmed | Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant |
| title_short | Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant |
| title_sort | neonatal myoclonus in bryant li bhoj syndrome associated with a novel h3f3a variant |
| url | https://doi.org/10.1038/s41439-024-00303-x |
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