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

doi:10.1016/j.xcrm.2021.100501

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Article

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

Cell reports. Medicine - 15 Feb 2022

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

Abstract excerpt

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 defect (ASD) in a five-generation pedigree. Mice with Tpm1 mutation exhibit early embryonic lethality with disrupted...

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PMID: 35243414
DOI: 10.1016/j.xcrm.2021.100501
PMCID: PMC8861813

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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