Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease

Brain & Development
Huiwen ZhangXuefan Gu

Abstract

We herein describe the first Chinese case of Canavan disease diagnosed by biochemical analysis and confirmed by DNA studies. We report two novel mutations: c.2T>C/M1T, an initiation codon mutation, and c.209A>G/N70S, which is located at the enzyme-substrate binding site. The combination of these two mutations resulted in a congenital form of Canavan disease.

References

Feb 1, 1990·American Journal of Medical Genetics·P T OzandM Dhalla
Oct 12, 2005·Neuropediatrics·C YalcinkayaM S van der Knaap
Dec 30, 2006·Proceedings of the National Academy of Sciences of the United States of America·Eduard BittoGeorge N Phillips

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Citations

Aug 2, 2012·Journal of Inherited Metabolic Disease·Stephen ZanoRonald E Viola
Jun 9, 2012·Journal of Intellectual Disability Research : JIDR·S GlicksmanJ Halle

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Canavan Disease

Canavan disease, a type of leukodystrophy, is an autosomal recessive neurodegenerative disorder, and is one of the most common degenerative cerebral diseases of infancy. Discover the latest research on Canavan disease here.

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