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[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]
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Contributors: Prab R. Tumpati, MD