Iranian Journal of Basic Medical Sciences، جلد ۲۴، شماره ۹، صفحات ۱۱۹۰-۱۱۹۵
عنوان فارسی
چکیده فارسی مقاله
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عنوان انگلیسی PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran
چکیده انگلیسی مقاله Objective(s): Infantile neuroaxonal degeneration (INAD) is a rare subgroup of neurodegeneration with brain iron accumulation (NBIA) disorders. This progressive disorder may develop during the early years of life. Affected individuals mostly manifest developmental delay and/or psychomotor regression as well as other neurological deficits. In the present study, we discussed 3 INAD patients diagnosed before the age of 10 by using Whole-Exome Sequencing (WES).Materials and Methods: We evaluated 3 pediatric patients with clinical phenotypes of INAD who underwent WES. Sanger sequencing was performed for co-segregation analysis of the variants in the families. An in-silico study was conducted for identification of the molecular function of the identified genetic variants in the PLA2G6 gene.Results: We detected three novel genetic variants in the PLA2G6 gene including a homozygous missense (NM_003560.2; c.1949T>C; p.Phe650Ser), a splicing (NM_001349864; c.1266-1G>A) and a frameshift variant (NM_003560.4; c.1547_1548dupCG; p.Gly517ArgfsTer29). Since the variants were not previously reported in literature or population databases, we performed in-silico studies for these variants and demonstrated their potential pathogenicity.Conclusion: The current study reports novel genetic variants in the PLA2G6 gene in the Iranian population, emphasizing the importance of high-throughput genetic testing in rare diseases.
کلیدواژه‌های انگلیسی مقاله Developmental disabilities, magnetic resonance imaging, Neuroaxonal dystrophies, Pantothenate kinase associated neuro degeneration, Whole exome sequencing
نویسندگان مقاله | Reza Jafarzadeh Esfehani
Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran|Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


| Atieh Eslahi
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran|Student Research Committee, Mashhad University of Medical Sciences, Mashhad, Iran


| Mehran Beiraghi Toosi
Department of Paediatric Neurology, Ghaem Medical Centre, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad


| Ariane Sadrnabavi
Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran|Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran|Iranian Academic Center for Education, Culture and Research, (ACECR), Mashhad, Iran


| Mohammad Amin Kerachian
Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran|Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


| Mahsa Sadat Mohajeri Asl
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


| Mahsa Farjami
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran|Student Research Committee, Mashhad University of Medical Sciences, Mashhad, Iran


| Farzaneh Alizadeh
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran|Student Research Committee, Mashhad University of Medical Sciences, Mashhad, Iran


| Majid Mojarad
Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran|Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
نشانی اینترنتی https://ijbms.mums.ac.ir/article_18639.html
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