de novo mutations
New insights into the generation and role of de novo mutations in health and disease
... prevent de novo muta- tions from arising in the germline of each new gener- ation, but attention must be brought to the factors that increase the number of de novo mutations in the ...
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De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention
... where de novo mutations occur in different ...one de novo mutation in the X-linked NLGN3 gene has been found to occur in an asymptomatic mother, who had two affected sons, one diagnosed ...
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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
... Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past few years. ...
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Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms
... detected de novo mutations in the last exon of ZNF148 in four patients and show significant enrichment of such mutations in our cohort of 2172 parent–offspring trios ana- lyzed by ...
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Clinical and molecular consequences of disease-associated de novo mutations in SATB2
... the de novo mutation identified in this article are indicated in a cartoon representation of the SATB2 wild-type protein, which includes the location of the DNA-binding ...the mutations that are ...
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Molecular Nature of 11 Spontaneous de Novo Mutations in Drosophila melanogaster
... tion spontaneous mutation rate (Drake et al. 1998; Second, can be estimated from the per locus muta- Kondrashov 1998). tion rate, m. If the mutational target at a locus, i.e., the Two approaches can be used to ...
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De novo mutations implicate novel genes in systemic lupus erythematosus.
... A recent study, however, with an extremely large sample size, identified rare and low frequency variants contributing to the genetic variance of adult human height 4—a polygenic trait wi[r] ...
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Novel and de novo mutations in pediatric refractory epilepsy
... Data analysis and pathogenicity of candidate variants After sequencing, raw data were saved in FASTQ for- mat. Illumina sequencing adapters and low quality reads (< 80 bp) were filtered by Cutadapt [14]. Clean reads ...
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Original Article Two different intragenic dystrophin deletions in a Chinese nuclear family with dystrophinopathies
... with de novo ...other de novo mutations, it has three different ...the de novo mutation had a more severe clinical ...other de novo cases and need further ...
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Compensatory Evolution and the Origins of Innovations
... Below we discuss the first two key assumptions—asexual reproduction and adaptation from de novo mutations—in more detail. First, consider our assumption of asexual re- production. Our results rely ...
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Contribution of advanced parental age in case of autism spectrum disorder
... and de novo copy number variants in an animal model (Flatscher-Bader et ...accumulating de novo mutations and in some cases proportion of age – related de novo ...
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Canalization by Selection of de Novo Induced Mutations
... germline mutations (Piacentini et ...genetic mutations precede the corresponding phenotypes, while according to the second view, phenotypes precede the cor- responding mutations, which could arise ...
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Fitness Consequences of Advanced Ancestral Age over Three Generations in Humans
... of de novo mutations is well understood; their accumulation with age leads to a host of genetic disorders, and they likely have consider- able consequences for Darwinian ...Thus, de ...
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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
... 175 de novo point mutations are expected [10,11], and 0 to 3 of these are anticipated to cause protein-coding changes ...protein-coding de novo mutation was identified (chr18, ...coding ...
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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
... with de novo mutations in PPM1D, we established a website to collect detailed clinical information of additional indi- viduals to be identified over the coming year (see Web ...
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Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA
... neuronal de- velopment [6, 7]. The recent finding that de novo PURA point mutations are indeed sufficient to cause the same severe neurological symptoms observed in patients with ...
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Genetic Stability of Bacterial Artificial Chromosome-Derived Human Cytomegalovirus during Culture In Vitro
... distinct mutations were detected, both comprising the deletion of a sequence extending from the a= region to a site within the vector ...strains, mutations were linked to the vector, and these were selected ...
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De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease
... frequency mutations between affected and unaffected individuals within the whole ...rare mutations, the association remained significant ( P = ...rare mutations in HSPA1L are associated with ...of ...
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Deep Sequencing of Influenza A Virus from a Human Challenge Study Reveals a Selective Bottleneck and Only Limited Intrahost Genetic Diversification
... Here, we analyze a unique data set generated from a human challenge study in which subjects were experimentally inoculated with cell- and egg-passaged IAV. Both the viral stock used to in- oculate the subjects and serial ...
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CEBPA mutations in patients with de novo acute myeloid leukemia: data analysis in a Chinese population
... in two main hotspots: N-terminal out-of-frame insertions/deletions cause translation of a 30 kDa protein, from an internal ATG start site, that lacks transactivation domain 1 and has a dominant negative effect over the ...
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