Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
J Trop Pediatr
; 54(3): 208-10, 2008 Jun.
Article
em En
| MEDLINE
| ID: mdl-17999961
ABSTRACT
Canavan disease is a neurodegenerative disease with autosomal recessive inheritance. Although this disease is prevalant among Ashkenazi Jewish population, several cases have been reported from all over the world. Canavan disease is caused by a genetic mutation in aspartoacylase gene. We have identified a novel mutation, a homozygous C432+1G>A mutation, in a 10-month-old boy who has a typical Canavan phenotype (without macrocephaly) accompanied by typical brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS) and diffusion magnetic resonance findings. The patient's mother was found to be heterozygous for this mutation. We believe that future studies of aspartoacylase gene in various ethnic groups could lead to a better understanding of Canavan's pathophysiology and gene therapy.
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Base de dados:
MEDLINE
Assunto principal:
Doença de Canavan
/
Amidoidrolases
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article