一名患有语言缺失和发作形式多样的神经发育障碍的日本患者中出现WASF1基因的复发性新生致病性变异。
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.
作者信息
Shimojima Yamamoto Keiko, Yanagishita Tomoe, Yamamoto Hisako, Miyamoto Yusaku, Nagata Miho, Ishihara Yasuki, Miyashita Yohei, Asano Yoshihiro, Sakata Yasushi, Yamamoto Toshiyuki
机构信息
Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
Tokyo Women's Medical University Institute of Integrated Medical Sciences, Tokyo, 162-8666, Japan.
出版信息
Hum Genome Var. 2021 Nov 29;8(1):43. doi: 10.1038/s41439-021-00176-4.
A recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features. The initial report of five adult patients with WASF1 variants was the only previous report regarding variants of this gene; this is the second such report, reaffirming that rare but recurrent truncating variants of WASF1 are associated with severe neurodevelopmental disorders.
在一名6岁日本女性患者中，发现了WASF1基因（NM_003931:c.1516C>T [p.Arg506*]）的一种复发性新生致病变异，该患者有严重发育迟缓、肌张力减退、多动行为和独特的面部特征。此前关于该基因变异的唯一报告是最初对5名成年WASF1基因变异患者的报道；这是第二篇此类报告，再次证实WASF1基因罕见但复发性的截短变异与严重神经发育障碍有关。
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