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Cell Journal، جلد ۱۶، شماره Suppl ۱، صفحات ۱۱۴-۱۱۴
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عنوان انگلیسی Ps-83: Mutations Detection in Patients with Wolfram Syndrome from Iran
چکیده انگلیسی مقاله Objective: Wolfram Syndrome is a rare genetic disorder inherited in an autosomal recessive mode. It is considered as a neurodegenerative disorder also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness). Mutations in WFS1 gene are found to be associated with the disease. WFS1 is located on chromosome 4p16.1 and consists of 8 exons. Wolfram Syndrome is mostly caused by mutations of exon 8 of this gene. In this study we investigated mutations in exon 8 of WSF1 gene which consists of 7 fragments in Iranian patients. Materials and Methods: Four male patients were coded as WF023, WF024, WF029, WF030 were investigated and their clinical symptoms were compatible with Wolfarm syndrome. DNA was extracted from peripheral blood of each patient and exon 8 of WFS1 gene was amplified by PCR method and direct sequencing was used for mutation detection in 7 fragments of this exon (8a-8g). Results: We found V333I mutation in fragment 8a of all patients. A novel mutation (G736D) was also found in fragment 8e of case WF023. Fragment 8a of patients WF029 and WF030 showed rs367605880 polymorphism. Other polymorphisms, rs56072215 in fragment 8a, rs2230719 in fragment 8c, rs2230721 and rs1046316 in fragment 8f of case WF030 were detected. In case WF030 we have also found three 3'UTR variations (rs1046317, rs1046319, rs1802453) in fragment 8g. Conclusion: The V333I mutation that we found in fragment 8a of all cases has also been reported in previous studies. However in some studies this was reported as a polymorphism. The novel G736D has been first time observed in patients with Wolfram syndrome in our study. This mutation was reported in 1000 genome database. Other polymorphisms found in our study have also been reported in previous investigations. Overall, it seems that more investigations is needed to exactly identify mutations related to Wolfram Syndrome in Iranian population.
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نشانی اینترنتی http://celljournal.org/journal/article/abstract/408
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