Family-based whole-genome sequencing identifies compound heterozygous protein-coding and noncoding mutations in tetralogy of Fallot

• Published in: Gene Vol. 741; p. 144555
• Main Authors: Wang, Yifeng, Jiang, Tao, Tang, Pushi, Wu, Yifei, Jiang, Zhu, Dai, Juncheng, Gu, Yayun, Xu, Jing, Da, Min, Ma, Hongxia, Jin, Guangfu, Mo, Xuming, Li, Qingguo, Wang, Xiaowei, Hu, Zhibin
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 30.05.2020
• Subjects: Clinical genetics; Compound heterozygous mutations; Exons - genetics; Female; Heterozygote; Humans; Male; Mutation - genetics; Open Reading Frames - genetics; Pedigree; Tetralogy of fallot; Tetralogy of Fallot - genetics; Tetralogy of Fallot - pathology; Whole Genome Sequencing; WGS; Whole genome sequencing; TOF; INDEL; NCC; Compound heterozygous mutations; Clinical genetics; sgRNA; NS-CHD; SNV; cDNA; Tetralogy of fallot; CHD

•Family-based WGS was performed to detect the genetic architecture of TOF.•A newly identified compound heterozygous pattern in TOF probands was establised.•Noncoding mutation in regulatory element was firstly involved in the pattern.•The noncoding mutation increased silencer activity to reduce NOTCH...