Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant
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.
Authors
- Yu Kobayashi (ORCID: https://orcid.org/0000-0002-6196-604X)
- Moemi Hojo
- Jun Tohyama (ORCID: https://orcid.org/0000-0001-6468-901X)
- Tomoo Ogi (ORCID: https://orcid.org/0000-0002-5492-9072)
- Noriko Soma
- Takeshi Ikeuchi (ORCID: https://orcid.org/0000-0001-8828-8085)
- Yosuke Nishio (ORCID: https://orcid.org/0000-0003-3543-7491)
- Hiromi Nyuzuki (ORCID: https://orcid.org/0000-0003-1502-0875)
- Taichi Oso (ORCID: https://orcid.org/0000-0001-8288-7829)
- Kei Yamada (ORCID: https://orcid.org/0000-0002-8123-3935)
- Hitomi Fujii
- Masaki Miura
Institutions
- Niigata University Medical and Dental Hospital (JP)
- National Hospital Organization (JP)
- Nishi Niigata Chuo National Hospital (JP)
- Nagoya University (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2024-12-04
- DOI
- https://doi.org/10.1038/s41439-024-00303-x
- Citations
- 2
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- Japan Agency for Medical Research and Development