Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene.
OBJECTIVE
Triple A syndrome is a rare autosomal recessive disease characterized by achalasia, alacrima, adrenocorticotrophic hormone resistant adrenal failure and some neurologic abnormalities. We report a nine year old patient with alacrima, optic atrophy and achalasia with mutation in the AAAS gene.


METHODS
PCR amplification of the complete coding sequence as well as the exon-intron junctions of AAAS gene was performed in DNA from the patient and his parents.


RESULTS
AAAS gene analysis demonstrated a homozygous A to G mutation at nucleotide position 122 in exon 1 in DNA from the patient.


CONCLUSIONS
The novel mutation described confirms the diagnosis.
Villanueva-Mendoza
Cristina
C
Department of Genetics, Asociación para Evitar la Ceguera en México, México City, Mexico. villanuevacristina@hotmail.com
artínez-Guzmán
Oswaldo
O
Rivera-Parra
David
D
Zenteno
Juan Carlos
JC
D000309:Adrenal Insufficiency / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D004931:Esophageal Achalasia / Q000175:diagnosis / Q000235:genetics*; D005074:Evoked Potentials, Visual; D005091:Exons / Q000235:genetics; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013577:Syndrome
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins