On 2016 Aug 10, Sander Houten commented:

In our paper, we described the molecular basis of alpha-aminoadipic and alpha-ketoadipic aciduria by sequencing DHTKD1 in 10 cases. Case 6 was compound heterozygous for c.1364G>A and c.1159+5G>A. The c.1159+5G>A mutation is likely to affect splicing because it changes a conserved position in the splice donor site of intron 6. In follow up studies, we have now addressed the consequences of the c.1159+5G>A mutation on splicing. For this, we generated cDNA from peripheral blood mononuclear cells and characterized the DHTKD1 transcripts. Our results revealed two different DHTKD1 transcripts in this individual. One transcript had the c.1364G>A mutation and a second transcript lacked exon 6. From this we conclude that as predicted, the c.1159+5G>A mutation leads to skipping of exon 6.

On 2016 Aug 10, Sander Houten commented:

In our paper, we described the molecular basis of alpha-aminoadipic and alpha-ketoadipic aciduria by sequencing DHTKD1 in 10 cases. Case 6 was compound heterozygous for c.1364G>A and c.1159+5G>A. The c.1159+5G>A mutation is likely to affect splicing because it changes a conserved position in the splice donor site of intron 6. In follow up studies, we have now addressed the consequences of the c.1159+5G>A mutation on splicing. For this, we generated cDNA from peripheral blood mononuclear cells and characterized the DHTKD1 transcripts. Our results revealed two different DHTKD1 transcripts in this individual. One transcript had the c.1364G>A mutation and a second transcript lacked exon 6. From this we conclude that as predicted, the c.1159+5G>A mutation leads to skipping of exon 6.