Figure 2: DNA and RNA sequencing of NCF2 (end exon 6). Figure 2A shows the sequence obtained from genomic DNA of family A, with patients A1 and A2 being homozygous for the c.605C>T mutation and all other family members heterozygous for this mutation. Figure 2B shows the sequence obtained with cDNA of patient B and her mother. The c.605C peak and the c.605T peak in the mother have a similar height, indicating that the mutated c.605T mRNA is as stable as the wild-type c.605C mRNA.