4. Conclusions
Whereas two mutations in the ASPA gene account for more than 98% of all mutant alleles causing Canavan disease in the Ashkenazi Jewish population, many different mutations can be found in non-Jewish individuals with Canavan disease. In our investigation of 40 non-Jewish patients with Canavan disease, we have found 24 novel mutations and one new polymorphism in the ASPA gene.
On the basis of this experience, it is concluded that the diagnosis of non-Jewish persons with Canavan disease requires sequencing of all exons and their splice sites as well as a search for insertions and deletions. When mRNA cannot be found so that cDNA is unavailable for sequencing, it may be possible to use polymorphisms in place of the actual mutations for prenatal diagnosis.
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7. References
Elpeleg, O.N., Shaag, A., 1999, The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. J. Inherit. Metab. Dis. 22:531.
Feigenbaum, A., Moore, R., Clarke, J., et al., 2004, Canavan Disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. Am. J. Med. Genet. 124A:142.
Kaul, R., Gao, G.P., Aloya, M., et al., 1994, Canavan disease: mutations among Jewish and non-Jewish patients. Am. J. Hum. Genet. 55:34.
Kaul, R., Gao, G.P., Balamurugan, K., Matalon, R., 1993, Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nature Genet. 5:118.
Kaul, R., Gao, R., Matalon, R., et al., 1996, Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. Am. J. Hum. Genet. 59:95
Kaul, R., Gao, G.P., Michals, K. et al., 1995, Novel (cys 125 arg) missense mutation in an Arab patient with Canavan disease. Hum. Mutat. 5:269.
Kelley, R.I., 1993, Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid. J. Inherit. Metab. Dis. 16:918.
Matalon, R., Michals, K., Sebasta, D., et al., 1988, Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet. 29:463.
Madhavarao, C.N., Moffett, J.R., Moore, R.A., 2004, et al. Immunohistochemical localization of aspartoacylase in the rat central nervous system. J. Comp. Neurol. 472:318.
Rady, P.L., Penzieu, J.M., Vargas, T., et al., 2000, Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease. Eur. J. Pediatr. Neurol. 4:27.
Sistermans, E. A., de Coo, R. F., van Beerendonk, H. M., Poll-The, B. T., Kleijer, W. J., and van Oost, B. A., 2000, Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population, Eur. J. Hum. Genet. 8:557.
Zeng, B. J., Wang, Z. H., Ribeiro, L, A,, Leone, P., De Gasperi, R., Kim, S. J., Raghavan, S., Ong, E., Pastores, G. M., and Kolodny, E. H., 2002, Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease, J. Inherit. Metab. Dis. 25:557.
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Zeng, BJ. et al. (2006). Mutation Analysis of the Aspartoacylase Gene in Non-Jewish Patients with Canavan Disease. In: Moffett, J.R., Tieman, S.B., Weinberger, D.R., Coyle, J.T., Namboodiri, A.M.A. (eds) N-Acetylaspartate. Advances in Experimental Medicine and Biology, vol 576. Springer, Boston, MA . https://doi.org/10.1007/0-387-30172-0_11
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