Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant

Moemi Hojo; Noriko Soma; Kei Yamada; Yu Kobayashi; Masaki Miura; Hitomi Fujii; Hiromi Nyuzuki; Yosuke Nishio; Taichi Oso; Tomoo Ogi; Takeshi Ikeuchi; Jun Tohyama

doi:10.1038/s41439-024-00303-x

Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant

Hum Genome Var. 2024 Dec 4;11(1):45. doi: 10.1038/s41439-024-00303-x.

Authors

Moemi Hojo¹, Noriko Soma¹, Kei Yamada¹, Yu Kobayashi¹, Masaki Miura¹, Hitomi Fujii¹, Hiromi Nyuzuki², Yosuke Nishio^{3

4}, Taichi Oso^{4

5}, Tomoo Ogi^{4

5}, Takeshi Ikeuchi², Jun Tohyama⁶

Affiliations

¹ Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan.
² Center for Medical Genetics, Niigata University Medical and Dental Hospital, Niigata, Japan.
³ Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
⁴ Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan.
⁵ Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
⁶ Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan. [email protected].

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.