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 "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated