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

Afshin Borhani Haghighi, Henry Houlden, Kamran Bagheri Lankarani, Alireza Taghavi, Kurosh Masnadi, Ali Reza Ashraf, Anahid Safari
Journal of Clinical Neuromuscular Disease 2006, 7 (3): 123-7
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 12q13. 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.

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