Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder

Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was...

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Autores principales: Golchin, Neda, Hajjari, Mohammadreza, Malamiri, Reza Azizi, Aminzadeh, Majid, Mohammadi-asl, Javad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2017
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738620/
https://www.ncbi.nlm.nih.gov/pubmed/29111560
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0110
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author Golchin, Neda
Hajjari, Mohammadreza
Malamiri, Reza Azizi
Aminzadeh, Majid
Mohammadi-asl, Javad
author_facet Golchin, Neda
Hajjari, Mohammadreza
Malamiri, Reza Azizi
Aminzadeh, Majid
Mohammadi-asl, Javad
author_sort Golchin, Neda
collection PubMed
description Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients. The data can update the mutation profile and contribute toward improved clinical management and counseling of MLD patients.
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spelling pubmed-57386202017-12-29 Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder Golchin, Neda Hajjari, Mohammadreza Malamiri, Reza Azizi Aminzadeh, Majid Mohammadi-asl, Javad Genet Mol Biol Human and Medical Genetics Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients. The data can update the mutation profile and contribute toward improved clinical management and counseling of MLD patients. Sociedade Brasileira de Genética 2017-11-06 2017 /pmc/articles/PMC5738620/ /pubmed/29111560 http://dx.doi.org/10.1590/1678-4685-GMB-2016-0110 Text en Copyright © 2017, Sociedade Brasileira de Genética. https://creativecommons.org/licenses/by/4.0/ License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited.
spellingShingle Human and Medical Genetics
Golchin, Neda
Hajjari, Mohammadreza
Malamiri, Reza Azizi
Aminzadeh, Majid
Mohammadi-asl, Javad
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
title Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
title_full Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
title_fullStr Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
title_full_unstemmed Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
title_short Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
title_sort identification of a novel mutation in arsa gene in three patients of an iranian family with metachromatic leukodystrophy disorder
topic Human and Medical Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738620/
https://www.ncbi.nlm.nih.gov/pubmed/29111560
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0110
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