PMC2837020_01
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Sequencing electropherograms showing GYS2 mutations. A: Sequencing electropherograms showing the substitution of C to T at nucleotide 736 resulting in a stop codon at exon 5 (c.736 C>T; R243X) (Upper panel) and the exon 7 deletion (GA) plus insertion (C) mutation at nucleotides 966-967 (966_967delGA/insC) also resulting in a premature stop codon (bottom panel). B: Frameshift in the codon sequence which is predicted to result in truncation of the GYS2 protein at amino acid 343.
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F1
Direct sequencing of the coding region of the GYS2 gene revealed that the affect child was compound heterozygous for two mutations: a novel mutation resulting from deletion/insertion (966_967delGA/insC at codons 322/323 in exon 7) resulting in overlapping peaks beginning at nucleotide c.966 (filled arrow) and a previously described nonsense mutation which causes the substitution of an arginine (CGA) for a stop codon (TGA) (c.736 C>T at codon 246 in exon 5; R246X) (Figure 1).
PMC2837020_04
PMC2837020_05