Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability

Analysis of large-scale human genomic data has yielded unexplained mutations known to cause severe disease in healthy individuals. Here, we report the unexpected recovery of a rare dominant lethal mutation in TPM1, a sarcomeric actin-binding protein, in eight individuals with large atrial septal def...

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Detalles Bibliográficos
Autores principales: Teekakirikul, Polakit, Zhu, Wenjuan, Xu, Xinxiu, Young, Cullen B., Tan, Tuantuan, Smith, Amanda M., Wang, Chengdong, Peterson, Kevin A., Gabriel, George C., Ho, Sebastian, Sheng, Yi, Moreau de Bellaing, Anne, Sonnenberg, Daniel A., Lin, Jiuann-huey, Fotiou, Elisavet, Tenin, Gennadiy, Wang, Michael X., Wu, Yijen L., Feinstein, Timothy, Devine, William, Gou, Honglan, Bais, Abha S., Glennon, Benjamin J., Zahid, Maliha, Wong, Timothy C., Ahmad, Ferhaan, Rynkiewicz, Michael J., Lehman, William J., Keavney, Bernard, Alastalo, Tero-Pekka, Freckmann, Mary-Louise, Orwig, Kyle, Murray, Steve, Ware, Stephanie M., Zhao, Hui, Feingold, Brian, Lo, Cecilia W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8861813/
https://www.ncbi.nlm.nih.gov/pubmed/35243414
http://dx.doi.org/10.1016/j.xcrm.2021.100501

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