%0 Journal Article %T PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran %J Iranian Journal of Basic Medical Sciences %I Mashhad University of Medical Sciences %Z 2008-3866 %A Jafarzadeh Esfehani, Reza %A Eslahi, Atieh %A Beiraghi Toosi, Mehran %A Sadrnabavi, Ariane %A Kerachian, Mohammad Amin %A Mohajeri Asl, Mahsa Sadat %A Farjami, Mahsa %A Alizadeh, Farzaneh %A Mojarad, Majid %D 2021 %\ 09/01/2021 %V 24 %N 9 %P 1190-1195 %! PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran %K Developmental disabilities %K magnetic resonance imaging %K Neuroaxonal dystrophies %K Pantothenate kinase associated neuro degeneration %K Whole exome sequencing %R 10.22038/ijbms.2021.55082.12340 %X 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. %U https://ijbms.mums.ac.ir/article_18639_365afe462dbce6db8d1599de4978cea4.pdf