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PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran

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...

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Autores principales: Jafarzadeh Esfehani, Reza, Eslahi, Atieh, Beiraghi Toosi, Mehran, Sadr-Nabavi, Ariane, Kerachian, Mohammad Amin, Asl Mohajeri, Mahsa Sadat, Farjami, Mahsa, Alizade, Farzaneh, Mojarrad, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mashhad University of Medical Sciences 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751752/
https://www.ncbi.nlm.nih.gov/pubmed/35083005
http://dx.doi.org/10.22038/ijbms.2021.55082.12340
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author Jafarzadeh Esfehani, Reza
Eslahi, Atieh
Beiraghi Toosi, Mehran
Sadr-Nabavi, Ariane
Kerachian, Mohammad Amin
Asl Mohajeri, Mahsa Sadat
Farjami, Mahsa
Alizade, Farzaneh
Mojarrad, Majid
author_facet Jafarzadeh Esfehani, Reza
Eslahi, Atieh
Beiraghi Toosi, Mehran
Sadr-Nabavi, Ariane
Kerachian, Mohammad Amin
Asl Mohajeri, Mahsa Sadat
Farjami, Mahsa
Alizade, Farzaneh
Mojarrad, Majid
author_sort Jafarzadeh Esfehani, Reza
collection PubMed
description 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.
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spelling pubmed-87517522022-01-25 PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran Jafarzadeh Esfehani, Reza Eslahi, Atieh Beiraghi Toosi, Mehran Sadr-Nabavi, Ariane Kerachian, Mohammad Amin Asl Mohajeri, Mahsa Sadat Farjami, Mahsa Alizade, Farzaneh Mojarrad, Majid Iran J Basic Med Sci Original Article 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. Mashhad University of Medical Sciences 2021-09 /pmc/articles/PMC8751752/ /pubmed/35083005 http://dx.doi.org/10.22038/ijbms.2021.55082.12340 Text en https://creativecommons.org/licenses/by/3.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/ (https://creativecommons.org/licenses/by/3.0/) ) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Jafarzadeh Esfehani, Reza
Eslahi, Atieh
Beiraghi Toosi, Mehran
Sadr-Nabavi, Ariane
Kerachian, Mohammad Amin
Asl Mohajeri, Mahsa Sadat
Farjami, Mahsa
Alizade, Farzaneh
Mojarrad, Majid
PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran
title PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran
title_full PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran
title_fullStr PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran
title_full_unstemmed PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran
title_short PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran
title_sort pla2g6 gene mutation and infantile neuroaxonal degeneration; report of three cases from iran
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751752/
https://www.ncbi.nlm.nih.gov/pubmed/35083005
http://dx.doi.org/10.22038/ijbms.2021.55082.12340
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