mutation

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Related to De novo mutation: back mutation, conditional mutant
  • noun

Synonyms for mutation

Synonyms for mutation

the process or result of making or becoming different

the process or result of changing from one appearance, state, or phase to another

Synonyms for mutation

(biology) an organism that has characteristics resulting from chromosomal alteration

a change or alteration in form or qualities

References in periodicals archive ?
In approximately two-thirds of cases, the disease is inherited from female carriers, and the remaining cases come from de novo mutations in individuals without a family history of muscular dystrophy (2, 3).
The de novo mutations were also found to be more frequent in children with congenital heart disease plus another birth defect, either neurodevelopmental delay or more-subtle abnormalities of finger or ear shape.
For instance, the previously mentioned study of 928 autism patients also highlighted two autism probands carrying nonsense de novo mutations on the SCN2A gene, which encodes a sodium channel alpha subunit; the gene previously has been shown to have strong associations with seizure disorders.
Fourth, they explored the analysis of maternal plasma DNA-sequencing data for detecting fetal de novo mutations and identified 2.
Biological Clocks of Older Fathers - Found that as men grow older, the number of de novo mutations they could pass to their children increases which could lead to higher risks of the infant developing autism and schizophrenia.
Parents can be reassured that the recurrence risk for future pregnancies is low, as most affected individuals have de novo mutations.
Trio analysis comparing father-mother-child variants enables studies of inherited and de novo mutations
We can even provide PGD for patients with de novo mutations, or for some without participating family members, a population of families for which PGD was not previously possible," said paper coauthor and FEC Clinical Laboratory Director Rebekah Zimmerman, PhD, FACMG.
Using the exome sequencing technique, the researchers identified 25 de novo mutations in the ALS patients.
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Professor and Chair of the Department of Molecular and Human Genetics at Baylor College of Medicine studies the role of epigenetic and de novo mutations in human disease.