Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
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.
Rady
P L
PL
Department of Pediatrics, University of Texas Medical Branch, Galveston, USA.
Penzien
J M
JM
Vargas
T
T
Tyring
S K
SK
Matalon
R
R
D000581:Amidohydrolases / Q000235:genetics*; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D017825:Canavan Disease / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D005091:Exons; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012326:RNA Splicing / Q000235:genetics*; D017422:Sequence Analysis, DNA
D001224:Aspartic Acid; C000179:N-acetylaspartate; D000581:Amidohydrolases; C019751:aspartoacylase