Author:
Huang Danping,Liu Min,Wang Hongying,Zhang Bingbing,Zhao Dongjing,Ling Weihao,Wang Manli,Feng Jun,Shen Yiping,Chen Xuqin
Abstract
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 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.
Funder
the Key special program funds of Jiangsu Province
Special project of diagnosis and treatment technology for key clinical diseases in Suzhou
the 15th batch of six talent peak training funds in Jiangsu Province
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Cited by
4 articles.
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