Figure 2

Compound heterozygous mutations in AAAS gene in subject with triple-A syndrome. The subject has a novel, five base-pair deletion in exon 15 (A, deletion boxed in control panel) predicted to cause a frameshift and a premature truncation of the Aladin protein. He also had a cytosine to thymidine mutation (B) in exon 9, predicted to cause a premature stop of protein translation.