FIGURE 2. Results of the genomic analysis of DICER1
A: Genomic localization and sequence of the intronic mutation of c.2437-15T>G located in intron 15. The intronic sequence is depicted in lowercase letters, whereas the succeeding sequence of exon 16 is in uppercase letters. B: Sanger sequencing ofDICER1 complementary DNA synthesized from mRNA obtained from the peripheral blood samples of the case with (upper) or without puromycin (lower). The splicing variant is more prominent in the sample that received puromycin treatment, denoting a truncating effect. C:Sanger sequencing of DICER1 DNA in an exon–intron boundary extracted from peripheral blood samples.