Clinical and CLB1 gene mutations analysis of GM1 gangliosidosis in a patient
10.3760/cma.j.issn.1006?7876.2019.10.004
- VernacularTitle:GM1神经节苷脂贮积症一例临床特点及GLB1基因突变分析
- Author:
Zhigang YANG
1
;
Yuan WANG
;
Guohong CHEN
;
Daoqi MEI
;
Chunge LI
;
Xiaona WANG
Author Information
1. 郑州大学附属儿童医院神经内科450000
- Keywords:
Gangliosidoses;
G(M1) Ganglioside;
beta?Galactosidase;
Genes;
Mutation
- From:
Chinese Journal of Neurology
2019;52(10):812-816
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical and CLB1 gene mutation characteristics of GM1 gangliosidosis patient. Methods The clinical data of one GM1 gangliosidosis patient from Children′s Hospital Affiliated to Zhengzhou University in March 2018 were reviewed and analyzed. The patient was diagnosed by gene detection and enzymatic activity. Results The patient is a 4 years and 1 month old boy, mainly presented psychomotor retrogression. His β?galactosidase activity was low (8.0 nmol·g-1·min-1). Two splice site mutations (c.458?2A(IVS4)>G and c.1068+5G(IVS10)>A) of patient′s CLB1 gene were screened by targeted next generation sequencing. The results of Sanger sequencing showed that the mutations are compound heterozygous and both are first reported. The mutation c.1068+5G(IVS10)>A was derived from patient′s mother, and the other one is de nove. Conclusion GM1 gangliosidosis is a rare neurodegenerative disease, which could be accurately diagnosed by the next generation sequencing and enzyme assay.
