Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population.

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Tác giả: Kenneth R Chien, Peter J Gruber, Haifa Hong, Qiongfen Lin, Vincent Chi-Hang Lui, Pak Chung Sham, Paul Kwong-Hang Tam, Clara Sze-Man Tang, Zhongluan Wu, Detao Zhang

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : HGG advances , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 716904

Tetralogy of Fallot (TOF) is the most common cyanotic heart defect in neonates. While there is compelling evidence of genetic contribution to the etiology of TOF, the contribution of noncoding variants to the development of the defect remains unexplored. Potentially damaging noncoding de novo variants (NC DNVs) were detected from 141 Chinese nonsyndromic TOF trios (CHN-TOF) and compared with those detected in the Pediatric Cardiac Genomics Consortium (PCGC). Bioinformatic analyses on noncoding and previously detected coding DNVs were performed to identify developmental pathways affected in TOF. Chinese but not PCGC-TOF patients showed a notably increased burden of putative damaging NC DNVs (n = 249). In Chinese, NC and coding DNVs were predominantly associated with cardiomyocyte differentiation and with chamber/valve/aorta development, respectively, producing a combined enrichment in NOTCH signaling (p = 1.1 × 10
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