Clinical and aspartoacylase gene mutation analysis of Canavan disease in a child
10.3760/cma.j.issn.1006-7876.2019.06.009
- VernacularTitle:Canavan病一例临床和天冬氨酸酰基转移酶基因突变分析
- Author:
Zhigang YANG
1
;
Guohong CHEN
;
Yanling YANG
;
Lulu KANG
;
Lei NIE
Author Information
1. 郑州大学附属儿童医院神经内科 450052
- Keywords:
Canavan disease;
Spongiform leukodystrophy;
Aspartoacylase gene;
Mutation
- From:
Chinese Journal of Neurology
2019;52(6):493-497
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical and aspartoacylase (ASPA) gene mutation characteristics of Canavan disease.Methods The clinical data of a child with Canavan disease diagnosed by gene detection who visited Children's Hospital Affiliated to Zhengzhou University in June 2018 were reviewed and analyzed.Results A one year and five months old girl presented with psychomotor retrogression,hypermyotonia,and tendon hyperreflexia.The urinary N-acetylaspartic acid levels were significantly higher (66.832 7,more than 60 times that of normal individuals).Magnetic resonance imaging of the brain showed a multiple and symmetrical hyperintense signal changes in the cerebral white matter.Two heterozygous mutations c.79_80del (p.Gly27Arg) and c.554G＞T (p.Gly185Val) were screened by targeted next generation sequencing.The results of Sanger sequencing showed the two mutations were compound heterozygous mutation derived from her father and mother,and the mutation c.554G＞T has never been reported.Conclusions The next generation sequencing can accurately detect ASPA gene mutation as the first choice for the diagnosis of Canavan disease.The mutation c.554G＞T enriches the gene mutation spectrum of Canavan disease.
