Genetic variants in core-spliceosome components are tied to a variety of aberrant splicing-driven inherited disorders. CWF19-like protein 2 (CWF19L2) is such a key component located in the spliceosome complex in charge of maturing pre-RNA. No disease-phenotype has been established for CWF19L2.
Scientists at de Duve Institute focused on the genetic causes of vascular anomalies, more specifically on capillary malformation with dilated veins (CMDV).
Researchers from Charité University Hospital Berlin and affiliated organizations presented data from a study that linked variants in ANO4 to different types of epilepsy.
Germline variants that did not affect gene function nevertheless affected multiple aspects of breast cancer risk, via their visibility to the immune system and its reactions. Perhaps most surprisingly, the same genetic constellations that were protective at the very earliest stage of breast cancer, stage 0 or ductal carcinoma in situ, were associated with worse outcomes once a tumor had become invasive.
University of Basel investigators have reported an association between mutations in the COQ8B gene and nonsyndromic retinitis pigmentosa (RP). RP is a genetically heterogeneous retinal degeneration disorder, which has been found to be associated with mutations in more than 70 genes. However, there are still cases for which no genetic cause has been found.
Researchers from Landeskrankenhaus Salzburg (SALK) - Universitätsklinikum der PMU have identified a novel loss-of-function variant in the NDUFA7 gene in a patient with Leber’s hereditary optic neuropathy (LHON).
The export of RNA from the cell nucleus is a key mechanism in the cell and during developmental stages. The pathway involving NTF2-related export protein 1 (NXT1) and nuclear RNA export factor 1 (NXF1) mediates bulk polyA mRNA through the nuclear pores.
One in every 500 newborns worldwide are affected by nonsyndromic hearing loss (NSHL). Whole-exome sequencing may help in identifying the genetic cause of NSHL.
Germline variants that did not affect gene function nevertheless affected multiple aspects of breast cancer risk, via their visibility to the immune system and its reactions. Perhaps most surprisingly, the same genetic constellations that were protective at the very earliest stage of breast cancer, stage 0 or ductal carcinoma in situ, were associated with worse outcomes once a tumor had become invasive.
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