TY - JOUR ID - 18639 TI - PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran JO - Iranian Journal of Basic Medical Sciences JA - IJBMS LA - en SN - 2008-3866 AU - Jafarzadeh Esfehani, Reza AU - Eslahi, Atieh AU - Beiraghi Toosi, Mehran AU - Sadrnabavi, Ariane AU - Kerachian, Mohammad Amin AU - Mohajeri Asl, Mahsa Sadat AU - Farjami, Mahsa AU - Alizadeh, Farzaneh AU - Mojarad, Majid AD - Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran AD - Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran AD - Department of Paediatric Neurology, Ghaem Medical Centre, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad Y1 - 2021 PY - 2021 VL - 24 IS - 9 SP - 1190 EP - 1195 KW - Developmental disabilities KW - magnetic resonance imaging KW - Neuroaxonal dystrophies KW - Pantothenate kinase associated neuro degeneration KW - Whole exome sequencing DO - 10.22038/ijbms.2021.55082.12340 N2 - 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. UR - https://ijbms.mums.ac.ir/article_18639.html L1 - https://ijbms.mums.ac.ir/article_18639_365afe462dbce6db8d1599de4978cea4.pdf ER -