ALLGROVE SYNDROME IN IRANIAN PATIENTS AND REPORT ON A NOVEL MUTATION IN AAAS GENE

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HASHEMIPOUR MAHIN; KHORRAMI MEHDI; Mahdavi Manijeh; HOSSEINDOKHT KHUJIN MARYAM; KHEIROLLAHI MAJID

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Journal: Iranian Journal of Pediatrics Year:2018 | Volume:28 | Issue:1 Page(s): 1-5

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Title

ALLGROVE SYNDROME IN IRANIAN PATIENTS AND REPORT ON A NOVEL MUTATION IN AAAS GENE

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Keywords

ALLGROVE SYNDROME

MUTATION

IRAN

AAAS GENE

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 Agenewasused to identifygenemutation, DNA wasextracted from blood samples. Exon1 to 16andsomeintrons 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 theAAAS 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 mayinfluence the therapy and prognosis of Allgrove patients, this paper contributes to understanding of the molecular basis of ALLGROVE SYNDROME in IRANian patients.

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APA: Copy

HASHEMIPOUR, MAHIN, KHORRAMI, MEHDI, Mahdavi, Manijeh, HOSSEINDOKHT KHUJIN, MARYAM, & KHEIROLLAHI, MAJID. (2018). ALLGROVE SYNDROME IN IRANIAN PATIENTS AND REPORT ON A NOVEL MUTATION IN AAAS GENE. IRANIAN JOURNAL OF PEDIATRICS, 28(1), 1-5. SID. https://sid.ir/paper/715263/en

Vancouver: Copy

HASHEMIPOUR MAHIN, KHORRAMI MEHDI, Mahdavi Manijeh, HOSSEINDOKHT KHUJIN MARYAM, KHEIROLLAHI MAJID. ALLGROVE SYNDROME IN IRANIAN PATIENTS AND REPORT ON A NOVEL MUTATION IN AAAS GENE. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2018;28(1):1-5. Available from: https://sid.ir/paper/715263/en

IEEE: Copy

MAHIN HASHEMIPOUR, MEHDI KHORRAMI, Manijeh Mahdavi, MARYAM HOSSEINDOKHT KHUJIN, and MAJID KHEIROLLAHI, “ALLGROVE SYNDROME IN IRANIAN PATIENTS AND REPORT ON A NOVEL MUTATION IN AAAS GENE,” IRANIAN JOURNAL OF PEDIATRICS, vol. 28, no. 1, pp. 1–5, 2018, [Online]. Available: https://sid.ir/paper/715263/en

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