Figure 2. The reference genomic DNA sequence is provided. A dashed line denotes an exon-exon boundary. (A) Sequence analysis identified homozygosity for the SUR1Δ17 in patient 1 with the homozygous p.Glu747* ABCC8 variant in exon 17. (B) Sequence analysis of cDNA from the unaffected father who is heterozygous for the p.Glu747* variant identified a transcript which lacked exon 17 and two transcripts which contained exon 17. An alternate splice recognition site at the 3’ intron 16/exon 17 boundary results in two transcripts containing either 36 or 39 basepairs (+/- CAG boxed) (GenBank L78208 and L78224).
