A novel DNA sequence variation in the first genetically confirmed allgrove syndrome in iran.

[triple a syndrome]

Allgrove syndrome or triple-A syndrome is an autosomal recessive disorder characterized by adrenal insufficiency , achalasia and alacrima . Affected patients may also present with a constellation of central and peripheral nervous system manifestations . The gene for Allgrove syndrome (ALADIN ) is located on chromosome 12 q 13 . Here we report a 23 -year -old man with alacrimia , achalasia , optic atrophy and progressive amyotrophic lateral sclerosis -like presentations . Sequencing of ALADIN gene showed a novel 6 -bp sequence variant that the patient was homozygous and his father was heterozygous for the defect . A probable mechanism of action of this newly diagnosed missense mutation would be to cause abnormal splicing of the ALADIN gene .