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.