The objective of this study is to determine functional characterization of novel GDAP1 variants in Chinese patients. Charcot–Marie–Tooth (CMT) disease is an inherited disease from sensorimotor peripheral neuropathies with an approximate count of 4 in 10 000 individuals. The effect of a novel splicing variant (c.694+1G>A) on pre‐mRNA was verified by Minigene. Biopsis of the skin were derived to characterize the biological effects of the novel variants p.L26R and p.S169fs. There were around 10 pathogenic variants in three known CMT related genes, including three novel variants (p.L26R, p.S169fs, c.694+1G>A) and one known pathogenic variant (p.R120W) in GDAP1. The review states that the clinical features of patients carrying pathogenic variants in GDAP1 and found that almost all Chinese CMT patients with GDAP1 variants consisting are axonal type. Indeed the results broaden the genetic spectrum of GDAP1 and provide the functional evidence for mitochondrial pathways in the pathogenesis of GDAP1 variants.
Therefore the effect of c.694+1G>A on pre‐mRNA was verified via minigene splicing assay.
Reference link- https://onlinelibrary.wiley.com/doi/10.1002/acn3.51233
