Furukawa Shogo, Miyamoto Sachiko, Fukumura Shinobu, Kubota Kazuo, Taga Toshiaki, Nakashima Mitsuko, Saitsu Hirotomo
Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan.
Hum Genome Var. 2022 Feb 18;9(1):7. doi: 10.1038/s41439-022-00184-y.
Variants in ATP1A3 cause neuropsychiatric disorders, especially those characterized by movement disorders. In this study, we performed whole exome sequencing for two patients with movement disorders and identified two novel heterozygous ATP1A3 variants, a missense c.2408G>A variant and an indel c.2672_2688+10delinsCAG variant. The unique indel variant occurred at the exon-intron boundary at the 3' end of exon 19, and mRNA analysis revealed that this variant caused in-frame indel alteration at the Ser891_Trp896 residue.
ATP1A3基因的变异会导致神经精神疾病，尤其是那些以运动障碍为特征的疾病。在本研究中，我们对两名患有运动障碍的患者进行了全外显子组测序，并鉴定出两个新的杂合ATP1A3变异，一个错义c.2408G>A变异和一个插入缺失c.2672_2688+10delinsCAG变异。独特的插入缺失变异发生在第19外显子3'端的外显子-内含子边界处，mRNA分析显示该变异导致了Ser891_Trp896残基处的框内插入缺失改变。
