Fig. 2From: A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature reviewGenomic DNA and mRNA analyses. A sequential analysis of genomic DNA obtained from the patient revealed a novel mutation in GRN (c.1118_1119delCCinsG; p.Pro373ArgX38). RT-PCR analysis using cDNA prepared from the patient’s peripheral lymphocytes revealed no expression of the mutant allele, suggesting haploinsufficiency due to nonsense-mediated mRNA decayBack to article page