Review
doi: 10.1016/j.gde.2013.01.007.
Epub 2013 Mar 1.
Point mutations as a source of de novo genetic disease
Affiliations
- PMID: 23453690
- DOI: 10.1016/j.gde.2013.01.007
Item in Clipboard
Review
Point mutations as a source of de novo genetic disease
Curr Opin Genet Dev.
2013 Jun.
Abstract
Family-based next generation sequencing (NGS) has recently pointed to an important role for de novo germline point mutations in both rare and common genetic disorders associated with reduced fitness. In this review we highlight the impact of the mutational target size on the frequency of diseases caused by these de novo point mutations. In addition, we will discuss the human per-generation mutation rate, its relation to advanced paternal age and how these factors affect the frequency of genetic disease caused by de novo events.
Copyright © 2013 Elsevier Ltd. All rights reserved.
Similar articles
-
From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease.J Med Genet. 2013 Apr;50(4):203-11. doi: 10.1136/jmedgenet-2013-101519. Epub 2013 Feb 9. J Med Genet. 2013. PMID: 23396985 Review.
-
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.Am J Hum Genet. 2021 Apr 1;108(4):597-607. doi: 10.1016/j.ajhg.2021.02.012. Epub 2021 Mar 5. Am J Hum Genet. 2021. PMID: 33675682 Free PMC article.
-
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.Mol Psychiatry. 2013 Feb;18(2):141-53. doi: 10.1038/mp.2012.58. Epub 2012 May 29. Mol Psychiatry. 2013. PMID: 22641181 Review.
-
Somatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging.Annu Rev Genet. 2018 Nov 23;52:397-419. doi: 10.1146/annurev-genet-120417-031501. Epub 2018 Sep 13. Annu Rev Genet. 2018. PMID: 30212236 Free PMC article. Review.
-
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963
Cited by
-
Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation.Orphanet J Rare Dis. 2021 Apr 9;16(1):168. doi: 10.1186/s13023-021-01804-6. Orphanet J Rare Dis. 2021. PMID: 33836792 Free PMC article. Review.
-
Role of recombination and faithfulness to partner in sex chromosome degeneration.Sci Rep. 2018 Jun 12;8(1):8978. doi: 10.1038/s41598-018-27219-1. Sci Rep. 2018. PMID: 29895905 Free PMC article.
-
New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches.Int J Mol Sci. 2022 Jun 18;23(12):6792. doi: 10.3390/ijms23126792. Int J Mol Sci. 2022. PMID: 35743235 Free PMC article. Review.
-
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Sci Rep. 2018 Mar 27;8(1):5285. doi: 10.1038/s41598-018-23520-1. Sci Rep. 2018. PMID: 29588463 Free PMC article.
-
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
