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

Huiwen Zhang; Xiaoqin Liu; Xuefan Gu

doi:10.1016/j.braindev.2010.01.001

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

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

Authors

Huiwen Zhang¹, Xiaoqin Liu, Xuefan Gu

Affiliation

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

PMID: 20129749
DOI: 10.1016/j.braindev.2010.01.001

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amidohydrolases / genetics*
Amidohydrolases / metabolism
Asian People / genetics
Binding Sites / genetics
Brain / pathology
Canavan Disease / enzymology
Canavan Disease / genetics*
Canavan Disease / pathology
China
Codon / genetics
DNA / genetics
Exons / genetics
Head / anatomy & histology
Humans
Infant
Introns / genetics
Magnetic Resonance Imaging
Male
Mutation, Missense / genetics*
Reverse Transcriptase Polymerase Chain Reaction

Substances

Codon
DNA
Amidohydrolases
aspartoacylase