PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran | ||
| Iranian Journal of Basic Medical Sciences | ||
| مقاله 4، دوره 24، شماره 9، آذر 2021، صفحه 1190-1195 اصل مقاله (806.19 K) | ||
| نوع مقاله: Original Article | ||
| شناسه دیجیتال (DOI): 10.22038/ijbms.2021.55082.12340 | ||
| نویسندگان | ||
| Reza Jafarzadeh Esfehani1، 2؛ Atieh Eslahi2، 3؛ Mehran Beiraghi Toosi4؛ Ariane Sadrnabavi1، 2، 5؛ Mohammad Amin Kerachian1، 2؛ Mahsa Sadat Mohajeri Asl2؛ Mahsa Farjami2، 3؛ Farzaneh Alizadeh2، 3؛ Majid Mojarad* 1، 2 | ||
| 1Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran | ||
| 2Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran | ||
| 3Student Research Committee, Mashhad University of Medical Sciences, Mashhad, Iran | ||
| 4Department of Paediatric Neurology, Ghaem Medical Centre, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad | ||
| 5Iranian Academic Center for Education, Culture and Research, (ACECR), Mashhad, Iran | ||
| چکیده | ||
| 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. | ||
| کلیدواژهها | ||
| Developmental disabilities؛ Magnetic resonance imaging؛ Neuroaxonal dystrophies؛ Pantothenate kinase associated neuro degeneration؛ Whole exome sequencing | ||
| مراجع | ||
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