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Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication
Background: Pathogenic mutations in the KCNH2 gene were associated with long QT syndrome 2 (LQT2), which typically manifest in a prolonged QT interval and may lead to recurrent syncopes, seizure, or sudden death. Limited reports indicated that the KCNH2 mutations would result in LQT2 combined with t...
Autores principales: | Zhuang, Jianlong, Chen, Chunnuan, Wang, Yuanbai, Zeng, Shuhong, Chen, Yu’e, Jiang, Yuying, Xie, Yingjun, Wang, Gaoxiong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9294376/ https://www.ncbi.nlm.nih.gov/pubmed/35865016 http://dx.doi.org/10.3389/fgene.2022.924573 |
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