Abstract
Canavan disease is a severe, progressive autosomal recessive neurodegenerative leukodystrophy. Canavan disease occurs more frequently among Ashkenazi Jewish individuals with two predominant mutations in the aspartoacylase (ASPA) gene. The disease is less frequent in non-Jewish individuals and the mutations randomly reside on the ASPA gene, with one mutation seen more frequently among patients of European extraction. In the present study we report a novel homozygous donor splice site mutation of intron 4 in a child with first-cousin parents of Turkish extraction.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amidohydrolases / genetics*
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Aspartic Acid / analogs & derivatives
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Aspartic Acid / metabolism
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Canavan Disease / diagnosis
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Canavan Disease / genetics*
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Child, Preschool
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Consanguinity
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Exons
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Female
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Genes, Recessive / genetics
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Humans
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Introns / genetics
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Mutation / genetics*
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Pedigree
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Polymorphism, Restriction Fragment Length
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RNA Splicing / genetics*
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Sequence Analysis, DNA
Substances
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Aspartic Acid
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N-acetylaspartate
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Amidohydrolases
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aspartoacylase