Analysis of GBA gene mutation in three families with Gaucher disease
10.3969/j.issn.1000-3606.2018.06.014
- VernacularTitle:戈谢病三家系GBA基因突变分析
- Author:
Ningxin HE
1
;
Wenqian ZHANG
;
Jiyao ZHANG
;
Wei DONG
;
Qiang LUO
;
Hao WANG
;
Yamei ZHAO
Author Information
1. 郑州大学第一附属医院儿科 河南郑州 450000
- Keywords:
Gaucher disease;
GBA gene;
mutation;
genotype
- From:
Journal of Clinical Pediatrics
2018;36(6):459-462
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the significance of GBA gene mutation and gene detection in diagnosis of Gaucher disease. Method The clinical data and genetic testing results of 3 probands from 3 unrelated Gaucher families and their family members were analyzed. Results A compound heterozygous mutation of c.907C>A and c.1448T>C was found in the proband of the first family, which was inherited from parents respectively. Another complex heterozygous mutation of c.1174delC and c.1226A>G was found in the proband of second family, which was inherited from parents respectively, and the variant c.1174delC was a new mutation, which has not been reported in the literature according to the search by HGMD. The homozygous nucleotide variation of c.1342G>C and heterozygous nucleotide variation of c.1263_1317del was found in the proband of the third family and the c.1263_1317del heterozygous mutation was inherited from father. Conclusion The mutation of GBA gene was the cause of Gaucher disease in these 3 families and Gaucher disease can be diagnosed by molecular genetics in clinic.
