PMC459227_01
PMC459227_02
MRI of the brain of 12 year-old boy with triple-A syndrome showing hypoplastic lacrimal glands (yellow arrows.)
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F1
MRI of the brain showed no abnormalities, but the main lacrimal glands appeared small bilaterally (Figure 1).
PMC459227_03
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.
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PMC459227_03_1471-2415-4-7-2.jpg
F2
In exon 15, and out-of-frame 5-bp deletion, c1368-1372delGCTCA, leads to a premature stop codon and a shortened protein of 492 amino acids (Figure 2.) Because both sequence changes are expected to result in premature truncation of the AAAS protein, they are likely pathological.