De novo mutation

De novo mutation is a mutation that neither parent possessed nor transmitted. In genetics, a de novo mutation is a new alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the parents, or a mutation that arises in the fertilized egg itself during early embryogenesis.

Overview

A de novo mutation is a genetic alteration that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the parents, or a mutation that arises in the fertilized egg itself during early embryogenesis. Also called new mutation.

Causes

De novo mutations may occur in a germ cell (egg or sperm) of one of the parents or in the fertilized egg itself during early embryogenesis. These mutations can contribute to genetic disorders or conditions.

Impact

The impact of de novo mutations on genetic disorders is profound. They are responsible for a substantial fraction of genetic disorders, including some instances of autism, schizophrenia, congenital heart disease, and intellectual disability.

Research

Research into de novo mutations is ongoing, with scientists seeking to understand the mechanisms by which they occur, as well as their impact on human health and disease.

See also

• Genetics
• Mutation
• Genetic Disorders