Etiological Analysis of Neurodevelopmental Disabilities: Single-Center Eight-Year Clinical Experience in South China

Figure 3

PCR-gel electrophoresis analysis of mutation 851del4 in the gene SLC25A13 of the two families with citrin-deficient patients C0013 and C0016. NC, Homo C and Hetero C in this figure are abbreviations of Normal Control, Homozygous Control and Heterozygous Control, respectively. F and M in the two families represent Father and Mother, respectively. The 78 bp PCR products in both patients are 4 bp shorter than the normal size 82 bp, suggesting that the 2 patients are both 851del4 homozygotes, and their parents all carriers of the same mutation.