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

[canavan disease]

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 .2 T >C /M 1 T , an initiation codon mutation , and c .209 A >G /N 70 S , which is located at the enzyme-substrate binding site . The combination of these two mutations resulted in a congenital form of Canavan disease .