TY - DATA T1 - Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder PY - 2017/11/29 AU - Neda Golchin AU - Mohammadreza Hajjari AU - Reza Azizi Malamiri AU - Majid Aminzadeh AU - Javad Mohammadi-asl UR - https://scielo.figshare.com/articles/dataset/Identification_of_a_novel_mutation_in_ARSA_gene_in_three_patients_of_an_Iranian_family_with_metachromatic_leukodystrophy_disorder/5634820 DO - 10.6084/m9.figshare.5634820 L4 - https://ndownloader.figshare.com/files/9814969 L4 - https://ndownloader.figshare.com/files/9814981 L4 - https://ndownloader.figshare.com/files/9814993 L4 - https://ndownloader.figshare.com/files/9815008 KW - Metachromatic leukodystrophy disorder KW - ARSA gene KW - mutation KW - arylsulfatase A N2 - Abstract 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. ER -