Hutchinson-Gilford progeria syndrome (HGPS), an extremely rare genetic disorder, arises when a silent point mutation in the gene encoding the nuclear envelope protein lamin A, LMNA, leads to abnormal splicing of LMNA mRNA.
Microsatellite instability (MSI), which results from defects in the DNA mismatch repair system, is an important biomarker in colorectal cancer. While the MSI-high (MSI-H) status predicts response to pembrolizumab, a commonly used immune checkpoint inhibitor in metastatic colorectal cancer, a subset of MSI-H patients still does not respond to this treatment.
