A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
Fetal Pediatr Pathol
; 31(4): 236-9, 2012 Aug.
Article
em En
| MEDLINE
| ID: mdl-22468686
ABSTRACT
Canavan disease is a severe autosomal recessive leukodystrophy characterized by macrocephaly, ataxia, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain. The human aspartoacylase (ASPA) gene, which catalyzes the deacetylation of N-acetyl-L-aspartate, is mutated in Canavan disease. In the presented family sequencing analysis for the aspartoacylase gene was performed on the blood samples of the parents as the affected child had died due to Canavan disease. After the mutation was detected, prenatal diagnosis was also performed and heterozygous Y88X mutation was detected in the fetus. In this report, we present a novel mutation Y88X within the aspartoacylase gene in a consanguineous family with an affected child diagnosed as Canavan disease.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Canavan
/
Amidoidrolases
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
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Infant
/
Male
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article