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.

Moemi Hojo

Noriko Soma

Kei Yamada

Yu Kobayashi

Masaki Miura

Hitomi Fujii

Hiromi Nyuzuki

Yosuke Nishio

Taichi Oso

Tomoo Ogi

Takeshi Ikeuchi

Jun Tohyama

Human Genome Variation

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

Bryant-Li-Bhoj综合征中新生儿肌阵挛与新型H3F3A变异相关

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

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Journal Info

Category	Quartile
GENETICS & HEREDITY	4