Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital 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.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.
Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Huiwen
H
Zhang
Xiaoqin
X
Liu
Xuefan
X
Gu
D000581:Amidohydrolases / Q000235:genetics* / Q000378:metabolism; D044466:Asian People / Q000235:genetics; D001665:Binding Sites / Q000235:genetics; D001921:Brain / Q000473:pathology; D017825:Canavan Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D002681:China; D003062:Codon / Q000235:genetics; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D006257:Head / Q000033:anatomy & histology; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
D003062:Codon; D004247:DNA; D000581:Amidohydrolases; C019751:aspartoacylase