The Origin and Characteristics of De Novo Mutations in Human and Its Impact on Offspring Health

ZHOU Jun^1,2, ZHU Jiawen^1,2, WANG Cheng^1,2,3*, HU Zhibin^1,2*

（¹State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing 211166, China; ²Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing 211166, China; ³Department of Bioinformatics, School of Biomedical Engineering and Informatics, Nanjing Medical University, Nanjing 211166, China)

Abstract:

In addition to genetic variations inheriting from ancestry, humans carry novel mutations that arise in each generation, known as de novo mutations. In recent years, high-throughput sequencing studies based on trios-design (“father-mother-offspring”) have preliminarily elucidated the origin and characteristics of de novo mutations. It has been discovered that de novo mutations play a significant role in various diseases, such as neurodevelopmental disorders and congenital heart diseases. Therefore, this article mainly reviews the origin, characteristics, and impact of human de novo mutations on offspring health, with a view to provide insight for the future study in this field.