新发现的 ATP1A2 变异在两名中国儿童发作性偏瘫中起作用，提升了基因-疾病关系和变异分类：病例报告。
De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report.
机构信息
Department of Neurology, Children's Hospital of Soochow University, No. 92 Zhongnan Street, Soochow, 215000, Jiangsu, China.
Department of Laboratory, Children's Hospital of Soochow University, Soochow, Jiangsu, China.
出版信息
BMC Med Genomics. 2021 Apr 1;14(1):95. doi: 10.1186/s12920-021-00947-6.
BACKGROUND
ATP1A2 gene mutation has been indicated to cause alternating hemiplegia of childhood (AHC); however, limited evidence supports this relationship so far.
CASE PRESENTATION
We reported two Chinese patients with de novo ATP1A2 variants (c.970G>A and c.889G>A). Both patients presented with episodes of alternating hemiplegia, seizures and mild developmental delay. Brain magnetic resonance imaging revealed abnormal signals in both patients.
CONCLUSIONS
The new genetic evidence we reported here strengthened the gene-disease relationship, and the gene curation level between ATP1A2 and AHC became "Moderate" following the ClinGen Standard Operation Procedure. Consequently, the two variants can be reclassified as likely pathogenic.
背景
ATP1A2 基因突变已被证实与儿童交替性偏瘫（AHC）有关；然而，目前仅有有限的证据支持这种关联。
病例报告
我们报告了两例中国患者携带新发 ATP1A2 变异（c.970G>A 和 c.889G>A）。两名患者均表现为交替性偏瘫、癫痫发作和轻度发育迟缓。脑磁共振成像显示两名患者均存在异常信号。
结论
我们在此报告的新的遗传证据加强了基因-疾病的关系，根据 ClinGen 标准操作程序，ATP1A2 与 AHC 之间的基因分类级别变为“中等”。因此，这两种变异可以重新归类为可能致病性。
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