title: Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene.
abstract: 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.
authors.affiliation: Department of Genetics, Asociación para Evitar la Ceguera en México, México City, Mexico. villanuevacristina@hotmail.com
authors.forename: Cristina
authors.initials: C
authors.lastname: Villanueva-Mendoza
authors.forename: Oswaldo
authors.initials: O
authors.lastname: artínez-Guzmán
authors.forename: David
authors.initials: D
authors.lastname: Rivera-Parra
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Zenteno
mesh_terms: 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
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins