Related Experiment Video
Updated: Jul 12, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
MST1R Gene Variants Predispose Individuals to Tetralogy of Fallot
Zhiyu Feng1,2, Xianghui Huang3, Yuan Gao1,2
1Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201002 China.
Abstract:
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart malformation. While a few susceptibility genes for TOF have been identified, research on the genetic basis of TOF is limited. The Macrophage stimulating 1 receptor (MST1R) gene encodes the macrophage-stimulating protein receptor with tyrosine phosphatase activity that is involved in immune defense. In this study, we performed whole-exome sequencing (WES) on 10 TOF families and 50 sporadic TOF patients and identified a recessive homozygous missense mutation in MST1R, c.T2009G: p.V670G, in two offspring with TOF in a single family. Targeted sequencing of the MST1R gene showed enrichment for rare variants in 417 TOF patients compared with East Asians in Genome Aggregation Database Version 2 (gnomADv2_EAS). MST1R-deficient human induced pluripotent stem cells (hiPSCs) maintained normal pluripotency but differentiated into non-functional cardiomyocytes (CMs). Taken together, our findings indicate that MST1R may play a critical role in cardiac differentiation and genetic variations in MST1R may be associated with the pathogenesis of TOF.
Supplementary Information:
The online version contains supplementary material available at 10.1007/s43657-024-00175-9.
Related Concept Videos
Mitral Valve Prolapse I: Introduction
Mitral Regurgitation I: Introduction
Mitral Regurgitation II: Clinical Features and Diagnostic Tests
Mitral Stenosis I: Introduction
Mitral Stenosis II: Clinical features and Diagnostic Tests
Mitral Stenosis III: Medical Management

