A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.
OBJECTIVE
The clinical and molecular data of a patient with triple A syndrome are reported.


METHODS
A 21-year-old male who was diagnosed for adrenal insufficiency at the age of 2 years after a severe attack of adrenal crisis. At the age of 4 years, achalasia and alacrima were diagnosed. Puberty started at the age of 17 years. At the same time, symptoms of central, peripheral, and autonomic nervous system dysfunction were noted. Later on, at the age of 20 years, a bone age delay of 6 years and severe osteoporosis was diagnosed.


RESULTS
A compound heterozygous AAAS mutation consisting of two mutations was found: a C > T transition in exon 7 resulting in a change of arginine at amino acid position 194 into a stop codon (Arg194X) at one allele, and a C > T transition in exon 12 resulting in a change of glutamine at amino acid position 387 into a stop codon (Gln387X) on the other allele.


CONCLUSIONS
The mutation in exon 7 (p.R194X) of the AAAS gene is a novel mutation which has not been found in any other family so far, whereas the second was already found in some other families. This case adds to the clinical and molecular spectrum of triple A syndrome and may provide a new insight into the functions of AAAS gene.
Dusek
Tina
T
Department of Internal Medicine, Division of Endocrinology, Clinical Hospital Center Zagreb and Zagreb University School of Medicine, Zagreb, Croatia. tdusek@mef.hr
Korsic
Marta
M
Koehler
Katrin
K
Perkovic
Zdravko
Z
Huebner
Angela
A
Korsic
Mirko
M
D000309:Adrenal Insufficiency / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002881:Chromosomes, Human, Pair 12; D004247:DNA / Q000032:analysis / Q000235:genetics; D004931:Esophageal Achalasia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005091:Exons / Q000235:genetics; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins / Q000235:genetics* / Q000502:physiology; D010024:Osteoporosis / Q000175:diagnosis / Q000503:physiopathology; D010902:Pituitary Gland / Q000503:physiopathology; D011628:Puberty, Delayed / Q000175:diagnosis / Q000503:physiopathology; D013577:Syndrome
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D004247:DNA