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 "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

You can validate or delete this automatically detected symptom