Two novel heterozygous variants in ATP1A3 cause movement disorders.
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ABSTRACT:
SUBMITTER: Furukawa S
PROVIDER: S-EPMC8857201 | biostudies-literature | 2022 Feb
REPOSITORIES: biostudies-literature
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Two novel heterozygous variants in ATP1A3 cause movement disorders.
Furukawa Shogo S Miyamoto Sachiko S Fukumura Shinobu S Kubota Kazuo K Taga Toshiaki T Nakashima Mitsuko M Saitsu Hirotomo H
Human genome variation 20220218 1
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 th ...[more]
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