Mutation

(redirected from De novo mutation)
Also found in: Dictionary, Thesaurus, Medical, Encyclopedia.
Related to De novo mutation: back mutation, conditional mutant

MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

References in periodicals archive ?
Previous studies (4, 23, 25) using Complete Genomics genome data have shown that de novo mutations (DNMs) can be detected with a low false-positive error rate by use of appropriate filters (see Methods file in the online Data Supplement).
In our patient, clinical screening of the family was not significant; hence, we concluded she developed a de novo mutation.
In terms of the genetic findings, the JAG1 c.2729dupA (p.Cys911Valfs*41) and NOTCH2 c.4819C>T (p.Arg1607Cys) variants have not previously been described and, with no obvious family history, it is most likely these were de novo mutations. However, it is also crucial to consider that the highly variable expression and reduced penetrance seen with ALGS could be influencing clinical presentation seen in one or both of our patient's parents.
Each specific de novo mutation is rare enough to be found in less than 1 percent of the autism population, but collectively they may account for 50 percent of all cases of autism, says the Simons Foundation's Fischbach.
It is the case a more likely difficult to trace family history, given that de novo mutation is rare in LHON [6].
He further said that in a given family, a de novo mutation could be a critical determinant that leads to the manifestation of autism spectrum disorder in a particular family member and if the family had a common variation that puts it at risk, an added de novo mutation could push an individual over the edge and result in that person developing the disorder.
The occurrence of this phenomenon should be studied further in the community to evaluate its distribution and clarify whether it is related to the occurrence of de novo mutation or mixed infections.
A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.