De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report

• DOI: 10.1186/s12920-021-00947-6
• Publication Date: 2021-04-01T23:04:38Z
• Authors: Danping Huang; Min Liu; Hongying Wang; Bingbing Zhang; Dongjing Zhao; Weihao Ling; Manli Wang; Jun Feng; Yiping Shen; Xuqin Chen
• Keywords: Human genetics

Abstract 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 variants (c.970G>A and c.889G>A). Both presented episodes hemiplegia, seizures mild developmental delay. Brain magnetic resonance imaging revealed abnormal signals in both patients. Conclusions The new genetic we here strengthened the gene–disease relationship, curation level between AHC became “Moderate” following ClinGen Standard Operation Procedure. Consequently, can be reclassified as likely pathogenic.