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

被引：7
|
作者：
Zhang, Huiwen [1 ]
Liu, Xiaoqin [1 ]
Gu, Xuefan [1 ]
机构：
[1] Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Xinhua Hosp,Dept Pediat Endocrinol & Genet Metab, Shanghai 200092, Peoples R China
来源：
BRAIN & DEVELOPMENT | 2010年 / 32卷 / 10期
基金：
中国国家自然科学基金;
关键词：
Canavan disease; Aspartoacylase; Mutation; NON-JEWISH PATIENTS; CLINICAL-COURSE;
D O I：
10.1016/j.braindev.2010.01.001
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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. (C) 2010 Elsevier B.V. All rights reserved.
引用
收藏
页码：879 / 882
页数：4
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