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Article

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

JCI insight - 25 Jan 2022

Tang Clara Sze Man, Mononen Mimmi, Lam Wai-Yee, Jin Sheng Chih, Zhuang Xuehan, Garcia-Barcelo Maria-Mercè, Lin Qiongfen, Yang Yujia, Sahara Makoto, Eroglu Elif, Chien Kenneth R, Hong Haifa, Tam Paul Kwong Hang, Gruber Peter J

Abstract excerpt

Tetralogy of Fallot (TOF) is the most common cyanotic heart defect, yet the underlying genetic mechanisms remain poorly understood. Here, we performed whole-genome sequencing analysis on 146 nonsyndromic TOF parent-offspring trios of Chinese ethnicity. Comparison of de novo variants and recessive genotypes of this data set with data from a European cohort identified both overlapping and potentially novel gene...

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Identifiers

PMID: 34905512
DOI: 10.1172/jci.insight.152198
PMCID: PMC8855809

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