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Brain Dev. 2010 Nov;32(10):879-82. doi: 10.1016/j.braindev.2010.01.001. Epub 2010 Feb 2.

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

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  • 1Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

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.

Copyright © 2010 Elsevier B.V. All rights reserved.

PMID:
20129749
[PubMed - indexed for MEDLINE]
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