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...

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Detalles Bibliográficos
Autores principales: Zhuang, Jianlong, Chen, Chunnuan, Wang, Yuanbai, Zeng, Shuhong, Chen, Yu’e, Jiang, Yuying, Xie, Yingjun, Wang, Gaoxiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
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

Internet

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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