A novel aspartoacylase (ASPA) gene mutation in Canavan disease.

[canavan disease]

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 Y 88 X mutation was detected in the fetus . In this report , we present a novel mutation Y 88 X within the aspartoacylase gene in a consanguineous family with an affected child diagnosed as Canavan disease .

Diseases
Validation

Diseases presenting "leukodystrophy" symptom

achondroplasia

adrenomyeloneuropathy

alexander disease

cadasil

canavan disease

carcinoma of the gallbladder

classical phenylketonuria

coats disease

fabry disease

gm1 gangliosidosis

krabbe disease

neonatal adrenoleukodystrophy

phenylketonuria

pyruvate dehydrogenase deficiency

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated