Factors influencing the clinical phenotype of hepatolenticular degeneration
10.3760/cma.j.cn501113-20211124-00579
- VernacularTitle:肝豆状核变性临床表型的影响因素
- Author:
Qianqian XIAO
1
;
Zixuan WANG
;
Jiangao FAN
Author Information
1. 上海交通大学医学院附属新华医院消化内科 上海市小儿消化与营养重点实验室，上海 200092
- Keywords:
Hepatolenticular degeneration;
Clinical phenotype;
Gene mutation;
Modifier gene;
Epigenetics
- From:
Chinese Journal of Hepatology
2023;31(2):207-211
- CountryChina
- Language:Chinese
-
Abstract:
Hepatolenticular degeneration is an autosomal recessive genetic disease caused by mutations in the ATP7B gene. More than 800 mutations have been identified in the ATP7B gene so far, with significant differences in clinical phenotypes among different mutation sites. Totally different clinical phenotypic mutations can even exist in the same gene. Although copper accumulation due to gene mutation is the basis of the pathogenesis of hepatolenticular degeneration, more and more evidence demonstrates that it is difficult to explain the diversity of clinical manifestations solely from the perspective of gene mutation. Therefore, this article reviews the research progress on the factors influencing genotype, modifier genes, epigenetics, age, gender, diet, and other factors on the phenotype of patients with hepatolenticular degeneration.
