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Allgrove Syndrome in Iranian Patients and Report on a Novel Mutation in Aaas Gene Publisher



Hashemipour M1 ; Khorrami M2 ; Mahdavi M2 ; Khujin MH2 ; Kheirollahi M2
Authors
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Authors Affiliations
  1. 1. Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Genetics and Molecular Biology Department, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Iranian Journal of Pediatrics Published:2018


Abstract

Allgrove syndrome (triple A syndrome) is a rare autosomal recessive condition with adrenal insufficiency, achalasia and alacrima. This syndrome is caused by mutations in AAAS gene. In this article we introduce six patients of Allgrove syndrome, in whom genetic analysis of the triple A gene was used to identify gene mutation, DNA was extracted from blood samples. Exon 1 to 16 and some introns of the AAAS gene were amplified by polymerase chain reaction (PCR). PCR products were evaluated by complete nucleotide sequence analysis. After sequencing, alignment and analysis were carried out. In one patient we identified a IVS14 + 1 G > A mutation, which is previously reported. In 4 patients, we couldn’t detect any mutation. We determined a new mutation (c.446 + 87del T) in the AAAS gene in a patient that this deletion causes splicing defect in intron 5 which results in a premature termination and non-functional ALADIN protein. In conclusion, since molecular genetic testing results may influence the therapy and prognosis of Allgrove patients, this paper contributes to understanding of the molecular basis of Allgrove syndrome in Iranian patients. © 2018, Iranian Journal of Pediatrics.
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