Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)
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چکیده
منابع مشابه
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 aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a...
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Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulphatase A (ARSA) (EC 3.1.6.8). MLD involves progressive demyelination, resulting in a variety of neurological symptoms varying in severity (Kolodny and Fluharty, 1995). The ARSA gene consists of eight exons encoding the 507 amino acid enzyme (Stein et al, 1989). It is transcr...
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Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder mainly caused by the arysulfatase A (ARSA) gene mutations, which results in ARSA activity deficient to accumulate sulfatide in the oligodendrocytes and in the Schwann cells. On the basis of the age of onset, MLD is characterized by three clinical subtypes: late infantile, juvenile, and adult. In this manuscr...
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To the Editor: Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder that is caused by a deficiency of the enzyme arylsulfatase A (ARSA). Toxic accumulation of sulfatides in myelin-producing cells of the central nervous system and peripheral nervous system (PNS) results in progressive demyelination. 1 The 3 major forms of MLD are late infantile–, juvenile-, and adult-onset MLD...
متن کاملSixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused mainly by mutations in the arylsulfatase A (ARSA) gene. In this manuscript we report sixteen novel mutations identified in the ARSA gene of fifteen unrelated patients affected with MLD. Of these 16 mutations nine were missense mutations (p.L11Q, p.S44P, p.L81P, p.R84L, p.V177D, p.P284S, p.R288S, p.G301R, p.P425S), three w...
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ژورنال
عنوان ژورنال: BMC Research Notes
سال: 2019
ISSN: 1756-0500
DOI: 10.1186/s13104-019-4773-3