Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene

Cristina Villanueva-Mendoza, Oswaldo artínez-Guzmán, David Rivera-Parra, Juan Carlos Zenteno
Ophthalmic Genetics 2009, 30 (1): 45-9

PURPOSE: 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.

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