Journal
FRONTIERS IN GENETICS
Volume 13, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2022.983668
Keywords
de novo mutation; mosaicism; timing of mutation; repeat instability; germline mutation; somatic mutation; autism spectrum disorder; genetic diseases
Categories
Funding
- ERA-NET Neuron grant Autisyn
- ERA-NET Neuron grant ADNPinMed
- Kazman Family Fund
- Petroff Family Fund
- Marigold Foundation
- Canadian Institutes for Health Research
- Canada Foundation for Innovation
- Natural Sciences and Engineering Research Council (NSERC)
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Mosaicism, the existence of genetically distinct populations of cells, is a significant cause of genetic diseases. Neurodevelopmental or neuropsychiatric disorders, such as autism, often arise from de novo mutations that are not present in either parent. The timing and mode of mutations can affect the burden and distribution of mutations.
Mosaicism-the existence of genetically distinct populations of cells in a particular organism-is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations, epigenetic alterations of DNA, and chromosomal abnormalities. Neurodevelopmental or neuropsychiatric diseases, including autism-often arise by de novo mutations that usually not present in either of the parents. De novo mutations might occur as early as in the parental germline, during embryonic, fetal development, and/or post-natally, through ageing and life. Mutation timing could lead to mutation burden of less than heterozygosity to approaching homozygosity. Developmental timing of somatic mutation attainment will affect the mutation load and distribution throughout the body. In this review, we discuss the timing of de novo mutations, spanning from mutations in the germ lineage (all ages), to post-zygotic, embryonic, fetal, and post-natal events, through aging to death. These factors can determine the tissue specific distribution and load of de novo mutations, which can affect disease. The disease threshold burden of somatic de novo mutations of a particular gene in any tissue will be important to define.
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