A closer look at thefamiliesof the 7 patients with P/LP variants who were not eligible for testing: In 2 cases where anAPCpathogenic variant was detected in patients who did not fulfil criteria, a different member of their family did. Conversely, the remaining 5 families, although there was...
WES detected a likely pathogenic heterozygous missense variant, c.3277G > A:p.Val1093Met, in the NF1 gene, confirmed by PCR and Sanger sequencing. The patient's parents and brother had a normal sequence at this locus. Conclusions: Although there is no cure for NF1, genetic tests, such ...
A germline pathogenic / likely pathogenic variant (P/LP), in a gene relevant to the personal or family history of cancer, was detected in 15 patients (detection rate of 10%). 46.7% of those found to have the P/LP variants (7 of 15), or 4.6% of the entire set (7 of 152), did...
A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonusdoi:10.1002/acn3.702A 60‐year‐old man is presented with progressive involuntary muscle movements and neuropsychiatric symptoms who developed a variety of additional complaints over 2years. Brain imaging revealed ...
The relation of structural variant numbers to SNP numbers and infection duration could not be analyzed because of the small number of variants detected. Three of the four structural variants were found in loci used in variable number of tandem repeats (VNTR) analysis, which detects genetic ...
We suggest that the N-terminal region of MAGEL2 may have a role in RNA metabolism and in particular the regulation of mRNAs modified by m6A methylation. These results provide mechanistic insight into pathogenic MAGEL2 mutations associated with Schaaf–Yang syndrome and related disorders....
Conclusion: Our finding suggested that although NGS technologies have increased variant detection yield, combined approaches were still needed for complex variant characterization and pathogenicity assessment.Bouras, AhmedLegrand, ClementineKourda, Jihen...
Correction to "A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype" Tinker, R. J., Guess, T., Rinker, D. C., Sheehan, J. H., Lubarsky, D., Porath, B., Mosera, M., Mayo...
These assessments may yield novel insights into the regulation of the worm’s response to pathogens and also to non-pathogenic microbes. We specifically consider transcription factors and characterize the presence of transcription factor binding motifs in the promoter regions of differentially expressed ...
Results: WES results identified two novel variants, a homozygous missense variant in CDH23 (c.2961T > G) and a heterozygous splice site variant in OTOGL that was compatible with the autosomal recessive pattern of inheritance. Bioinformatics studies confirmed the pathogenic effects of novel variants...