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A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico
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EDITOR
Canavan disease (McKusick No 271900) is an
autosomal recessive disorder characterised by spongy degeneration of
the brain. This disorder is most prevalent in people of Ashkenazi Jewish descent but has been observed in other ethnic groups. Patients have severe mental retardation, poor head control, macrocephaly, and
seizures. Canavan disease is caused by the accumulation of N-acetylaspartic acid (NAA) in the brain as the result of a deficiency of aspartoacylase (ASPA) (EC 3.5.1.15) activity.1
The human ASPA gene has been mapped to
chromosome 17p13. The gene spans a distance of approximately 30 kb and
is organised into six exons.2 Previously described
mutations in the ASPA gene include single
nucleotide changes leading to missense, nonsense, and exon skipping
mutations and frameshift mutations caused by the insertion or deletion
of a small number (1-4 bp) of nucleotides.3 In Ashkenazi
Jewish patients, the E285, Y231X, and 433-2(A to G) mutations account
for approximately 82.9%,
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This article has been cited by other articles:
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Olsen, T R, Tranebjaerg, L, Kvittingen, E A, Hagenfeldt, L, Moller, C, Nilssen, O
(2002). Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease. J. Med. Genet.
39: e55-55
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