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

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• 作者：Huiwen Zhang ; Xiaoqin Liu ; Xuefan Gu
• 关键词：Canavan disease ; Aspartoacylase ; Mutation
• 刊名：Brain and Development
• 出版年：2010
• 出版时间：November 2010
• 年：2010
• 卷：32
• 期：10
• 页码：879-882
• 全文大小：434 K

文摘

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.