Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
Genet. mol. biol
;
40(4): 759-762, Oct.-Dec. 2017. tab, graf
Article
in English
| LILACS
| ID: biblio-892456
ABSTRACT
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.
Full text:
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Index:
LILACS (Americas)
Type of study:
Diagnostic study
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2017
Type:
Article
Affiliation country:
Iran
Institution/Affiliation country:
Noor Genetics Lab/IR
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