title: A novel DNA sequence variation in the first genetically confirmed allgrove syndrome in iran.
abstract: 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.
authors.affiliation: Departments of *Neurology double daggerInternal Medicine section signPhysical Medicine and Student Research Committee, Shiraz University of Medical Sciences, Islamic Republic of Iran daggerDepartment of Clinical Neurology, Institute of Neurology, London, UK.
authors.forename: Afshin
authors.initials: A
authors.lastname: Borhani Haghighi
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
authors.forename: Kamran Bagheri
authors.initials: KB
authors.lastname: Lankarani
authors.forename: Alireza
authors.initials: A
authors.lastname: Taghavi
authors.forename: Kurosh
authors.initials: K
authors.lastname: Masnadi
authors.forename: Ali Reza
authors.initials: AR
authors.lastname: Ashraf
authors.forename: Anahid
authors.initials: A
authors.lastname: Safari