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

页码：879 / 882

页数：4

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