De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report
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 pr...
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2021-04-01
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| Series: | BMC Medical Genomics |
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| Online Access: | https://doi.org/10.1186/s12920-021-00947-6 |
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doaj-dafedca9c250445b98f25fa77c0a9bba2021-04-04T11:08:43ZengBMCBMC Medical Genomics1755-87942021-04-011411610.1186/s12920-021-00947-6De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case reportDanping Huang0Min Liu1Hongying Wang2Bingbing Zhang3Dongjing Zhao4Weihao Ling5Manli Wang6Jun Feng7Yiping Shen8Xuqin Chen9Department of Neurology, Children’s Hospital of Soochow UniversityDepartment of Neurology, Children’s Hospital of Soochow UniversityDepartment of Laboratory, Children’s Hospital of Soochow UniversityDepartment of Neurology, Children’s Hospital of Soochow UniversityDepartment of Neurology, Children’s Hospital of Soochow UniversityDepartment of Neurology, Children’s Hospital of Soochow UniversityDepartment of Neurology, Children’s Hospital of Soochow UniversityDepartment of Neurology, Children’s Hospital of Soochow UniversityGenetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children’s Hospital of Guangxi Zhuang Autonomous RegionDepartment of Neurology, Children’s Hospital of Soochow UniversityAbstract 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.https://doi.org/10.1186/s12920-021-00947-6Alternating hemiplegia of childhoodATP1A2De novoVariant classification |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Danping Huang Min Liu Hongying Wang Bingbing Zhang Dongjing Zhao Weihao Ling Manli Wang Jun Feng Yiping Shen Xuqin Chen |
| spellingShingle |
Danping Huang Min Liu Hongying Wang Bingbing Zhang Dongjing Zhao Weihao Ling Manli Wang Jun Feng Yiping Shen Xuqin Chen De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report BMC Medical Genomics Alternating hemiplegia of childhood ATP1A2 De novo Variant classification |
| author_facet |
Danping Huang Min Liu Hongying Wang Bingbing Zhang Dongjing Zhao Weihao Ling Manli Wang Jun Feng Yiping Shen Xuqin Chen |
| author_sort |
Danping Huang |
| title |
De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report |
| title_short |
De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report |
| title_full |
De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report |
| title_fullStr |
De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report |
| title_full_unstemmed |
De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report |
| title_sort |
de novo atp1a2 variants in two chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report |
| publisher |
BMC |
| series |
BMC Medical Genomics |
| issn |
1755-8794 |
| publishDate |
2021-04-01 |
| description |
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. |
| topic |
Alternating hemiplegia of childhood ATP1A2 De novo Variant classification |
| url |
https://doi.org/10.1186/s12920-021-00947-6 |
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