与一种新型H3F3A变异相关的布莱恩特-李-博杰综合征中的新生儿肌阵挛。
Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.
作者信息
Hojo Moemi, Soma Noriko, Yamada Kei, Kobayashi Yu, Miura Masaki, Fujii Hitomi, Nyuzuki Hiromi, Nishio Yosuke, Oso Taichi, Ogi Tomoo, Ikeuchi Takeshi, Tohyama Jun
机构信息
Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan.
Center for Medical Genetics, Niigata University Medical and Dental Hospital, Niigata, Japan.
出版信息
Hum Genome Var. 2024 Dec 4;11(1):45. doi: 10.1038/s41439-024-00303-x.
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.
布莱恩特-李-博杰综合征（BLBS；OMIM编号#619720、619721），由编码组蛋白H3.3的生殖系H3F3A和H3F3B变异引起，其特征为轻度至重度发育迟缓、智力残疾、生长发育不良、肌张力异常和面部畸形特征。在此，我们报告一名日本患者，其H3F3A基因存在一种新的杂合p.A48G变异，表现出此前未被认识到的新生儿肌阵挛症状。该病例有助于拓宽BLBS的表型谱。
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