Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis.
10.3760/cma.j.issn.1003-9406.2019.02.008
- VernacularTitle:GM1神经节苷脂贮积症患儿的GLB1基因突变研究
- Author:
Min GAO
1
;
Ruifeng JIN
;
Kaihui ZHANG
;
Zhiyi LI
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Case Reports
- MeSH:
Female;
Gangliosidosis, GM1;
genetics;
Humans;
Infant;
Infant, Newborn;
Mutation;
Pedigree;
beta-Galactosidase;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(2):128-131
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic cause for a child with growth retardation by next generation sequencing (NGS).
METHODS:Clinical data of the patient was collected. Peripheral venous blood samples were taken from the neonate and his parents. Targeted capturing and NGS were carried out to detect mutations of genes associated with inborn errors of metabolism. Suspected mutations were validated by Sanger sequencing.
RESULTS:The 15-month-old female patient was admitted to hospital for growth retardation for 4 months. Hypomyelination was found upon cranium MRI. Genetic testing revealed two novel insertional mutations in the GLB1 gene in the patient, namely c.2006-2007insT and c.475-476 insGGTCC.
CONCLUSION:The c.2006-2007insT and c.475-476 insGGTCC mutations of the GLB1 gene probably underlie the GM1 gangliosidosis resulting in the growth retardation in the child.
