Data/hora: 11/06/2024 12:47:05

Provedor de dados: | 74
País: | Brazil
Título: | Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
Autores: | Golchin,Neda; Hajjari,Mohammadreza; Malamiri,Reza Azizi; Aminzadeh,Majid; Mohammadi-asl,Javad.
Data: | 2017-12-01
Ano: | 2017
Palavras-chave: | Metachromatic leukodystrophy disorder; ARSA gene; Mutation; Arylsulfatase A.
Resumo: | 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 &gt; 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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500759
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/1678-4685-gmb-2016-0110
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.40 n.4 2017
Fonte: | info:eu-repo/semantics/openAccess