Analysis of the Expression of the New NLRP7 Gene c.1374-1375del Mutation

This study aimed to analyze the impact of the NLRP7 c.1374-1375del frameshift mutation site on its transcription and expression products, to enrich the genetic resources of this site, and to summarize the current international research progress on NLRP7 nonsense mutations. The minigene expression vector analysis technique was used to detect the transcription and protein expression of NLRP7 c.1374-1375del mutation using a vector construction, cell transfection, qPCR, and Western blot. The mRNA expression level of the NLRP7 gene homozygous mutation c.1374-1375del, p.Arg458SerfsTer69 was not significantly different from wild type (wt), but the protein expression level was significantly lower. The NLRP7 gene homozygous mutation (c.1374-1375del) that caused the protein expression level decreased may be the genetic mechanism of this mutation, which expands the spectrum of NLRP7 gene variants.