Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease
10.3760/cma.j.cn121090-20230506-00179
- VernacularTitle:20例戈谢病遗传学特点和临床分析
- Author:
Tianbo ZHANG
1
;
Xiaoling WEN
;
Xialin ZHANG
;
Junrong YAN
;
Guoping HAO
;
Linhua YANG
;
Ruijuan ZHANG
Author Information
1. 山西医科大学第三医院（山西白求恩医院、山西医学科学院、同济山西医院），太原 030032
- From:
Chinese Journal of Hematology
2024;45(1):82-85
- CountryChina
- Language:Chinese
-
Abstract:
Gaucher Disease (GD) is an autosomal recessive lysosomal storage disorder characterized by high heterogeneity. This study aimed to further understand the correlation between clinical phenotypes and genotypes in GD patients through a retrospective analysis of 20 cases in Shanxi Bethune Hospital, including their clinical manifestations, laboratory tests, enzyme studies, and genetic results. Among the 20 GD patients, 16 were classified as Type Ⅰ GD with a median age of diagnosis of 24 years, and 4 were classified as Type Ⅲ GD with a median age of diagnosis of 19 years. All patients exhibited splenomegaly and thrombocytopenia, with 16 patients showing skeletal imaging changes, and 5 of them presenting with bone pain symptoms. Genetic analysis revealed 15 distinct mutations, predominantly missense mutations, with L483P being the most prevalent (35.7%), followed by V414L, L303I, and F252I. Mutation sites were predominantly located in exon 7. Noteworthy findings included the first report of the S310G mutation by our research group and the first occurrence of the K196R mutation in the Chinese population. Additionally, the N227S mutation was implicated in a potential association with neuropathy. Despite advancements, Uncertainties still exist in the correlation between clinical phenotypes and genotypes in GD patients.
