Cargando…
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...
Autores principales: | , , , , , , , , |
---|---|
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 |
_version_ | 1784631744386826240 |
---|---|
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. |
format | Online Article Text |
id | pubmed-8751752 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Mashhad University of Medical Sciences |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT jafarzadehesfehanireza pla2g6genemutationandinfantileneuroaxonaldegenerationreportofthreecasesfromiran AT eslahiatieh pla2g6genemutationandinfantileneuroaxonaldegenerationreportofthreecasesfromiran AT beiraghitoosimehran pla2g6genemutationandinfantileneuroaxonaldegenerationreportofthreecasesfromiran AT sadrnabaviariane pla2g6genemutationandinfantileneuroaxonaldegenerationreportofthreecasesfromiran AT kerachianmohammadamin pla2g6genemutationandinfantileneuroaxonaldegenerationreportofthreecasesfromiran AT aslmohajerimahsasadat pla2g6genemutationandinfantileneuroaxonaldegenerationreportofthreecasesfromiran AT farjamimahsa pla2g6genemutationandinfantileneuroaxonaldegenerationreportofthreecasesfromiran AT alizadefarzaneh pla2g6genemutationandinfantileneuroaxonaldegenerationreportofthreecasesfromiran AT mojarradmajid pla2g6genemutationandinfantileneuroaxonaldegenerationreportofthreecasesfromiran |