PMC4004906_01
Electrochromatograms showing the two mutations found in the patient. p.Q15K on exon
1 has been previously described while p.V185DfsX4 on exon 7 is a novel mutation.
cpe-18-073-g001.jpg
PMC4004906_01_cpe-18-073-g001.jpg
fig_001
Triple A (Allgrove) Syndrome (OMIM#231550). The patient was heterozygous for a known mutation of the AAAS gene, a C>A nucleotide transversion at position 43 in exon 1 resulting in the replacement of a Glutamine with Lysine at amino acid position 15 (p.Gln15Lys) and a previously undescribed mutation resulting in the deletion of two nucleotides and an insertion of a single "A" nucleotide in exon 7 (c.554_55delTCinsA) (see Fig. 1).