De novo mutation

From WikiMD's Wellness Encyclopedia

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

References[edit | edit source]


De novo mutation Resources

Contributors: Prab R. Tumpati, MD