Fig. 2 | Nature Communications

Fig. 2

From: ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Fig. 2

Molecular analysis in AIMS patients. a Genomic organization of the ABCC9 gene: (1) basic genomic structure of ABCC9 includes at least 39 potential exons, excluding untranslated regions (UTRs). The c.1320 + 1 G > A mutation predicted to disrupt the splice donor site of exon 8 is indicated by a red arrow. Scale bar, 5000 bp. (2) The mutation impacts both the SUR2A and SUR2B splice forms, which differ only in the last exon. Affected exon 8 in patients is marked in red. Odd-numbered exons are presented as black boxes, even-numbered exons as gray boxes. b Analysis of the effect of the mutation at the cDNA level in Family 1. Two control cDNA samples (indicated by a C) show the wild-type PCR product containing exon 8, parents (I:1, I:2) show heterozygosity for the wt and a lower band lacking exon 8, whereas patient cDNA (1–2, 1–3, 1–4) only yielded the lower band

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