mutation

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Related to De novo mutation: back mutation, conditional mutant
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  • 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 ?
De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.
De novo mutations inschizophrenia implicate synaptic networks.
It was quite another to suggest that de novo mutations played a major role in diseases that develop early in life.
Buxbaum added that people have been focusing on de novo mutations, such as the ones that can occur in the sperm of an older father, they have found that mutations are also key contributors, it is important to know that there is underlying risk in the family genetic architecture itself.
The most probable reason for this is a de novo mutation in the proband.
The mutation was confirmed by Sanger sequencing; however, it was not found from the patient's parents, indicating that it was a de novo mutation. Such mutation resulted in the replacement of Arg by Ile at codon 1856.
These results suggested that the mutation of the proband is a de novo mutation. Pedigree of the family is shown in Figure 3c.
In order to determine if the parents of the patient had heterozygote mutation or if this is a de novo mutation, genetic analysis was also performed to the parents.
Artuch et al., "Alternating hemiplegia of childhood with a de novo mutation in atp1a3 and changes in SLC2A1 responsive to a ketogenic diet," Pediatric Neurology, vol.
For cfDNA sequencing, a 5% allele frequency threshold was used for de novo mutation identification, and the 1% threshold was used to monitor previously identified mutations during treatment.
Most affected individuals have inherited the mutation from one of their parents, but rarely it can be caused by a de novo mutation. Penetrance is known to be incomplete, meaning that some carriers of a SHOX mutation may appear to be normal or minimally affected.
It is possible that a de novo mutation of the gene, rather than a paternal meiotic nondysjunction was present in our patient.
While de novo mutation is quite common in BMD/DMD patients, it is rarely reported in the female carriers.
The mutation was not detected in any of the family members and the final diagnosis was WFSL caused by a de novo mutation c.2425G>A, p.(Glu809Lys).