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A heterozygous pathogenic variant in the ATP6V1A gene triggering epilepsy in a large Chinese pedigree.
Xiaoquan, Chen; Yuting, Lou; Pu, Miao; Haiying, Cheng; Zheng, Wan; Ye, Wang; Fan, Yang; Mengmeng, Liang; Jianhua, Feng.
Afiliación
  • Xiaoquan C; Department of Pediatric, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Yuting L; Department of Pediatric, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Pu M; Department of Pediatric, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Haiying C; Department of Pediatric, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Zheng W; Department of Pediatric, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Ye W; Department of Pediatric, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Fan Y; Cipher Gene LLC, Beijing, China.
  • Mengmeng L; Cipher Gene LLC, Beijing, China.
  • Jianhua F; Department of Pediatric, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. Electronic address: hzhz87083886@zju.edu.cn.
Clin Neurol Neurosurg ; 233: 107956, 2023 10.
Article en En | MEDLINE | ID: mdl-37729800
Epilepsy is one of the most common disorders in children, with an incidence rate of approximately 5%. Although an increasing number of genes have been demonstrated to be pathogenic factors in epilepsy, evidence for a potential pathogenic role of ATP6V1A remains limited. Herein, the clinical and genetic data of a 5-year-old boy who experienced seizures at 9 months of age are collected. Genetic variants are screened using whole-exome sequencing (WES), and the effects of the candidate variants are further validated at both the RNA and protein levels. WES reveals a heterozygous variant [NM_001690.4: c .1132 C>T, p.Leu378Phe] of the ATP6V1A gene. This variant is not reported in the public database, but is predicted to be deleterious by multiple software packages, and classified as a variant of unknown significance following the American College of Medical Genetics and Genomics guidelines. Quantitative PCR and western blotting further confirm its down-regulatory role in both the RNA and protein expression of ATP6V1A. This case report confirms the pathogenicity of ATP6V1A in epilepsy with solid experimental evidence, thereby expanding the phenotype spectrum of ATP6V1A variants. More importantly, we show that seizures triggered by ATP6V1A variants could be controlled by Levetiracetam, crucially rescuing the development of the patient.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ATPasas de Translocación de Protón Vacuolares / Epilepsia Tipo de estudio: Guideline / Prognostic_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Clin Neurol Neurosurg Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ATPasas de Translocación de Protón Vacuolares / Epilepsia Tipo de estudio: Guideline / Prognostic_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Clin Neurol Neurosurg Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Países Bajos