Study on the relationship between gene mutation types and clinical phenotypes in patients with tuberous sclerosis complex accompanied by epilepsy
- VernacularTitle:结节性硬化症伴癫痫发作患者基因突变类型与临床表型相关性研究
- Author:
Jing GUO
1
;
Peiqi ZHANG
1
;
Yang JIN
1
Author Information
- Publication Type:Journal Article
- Keywords: Tuberous sclerosis complex ； Epilepsy ； TSC1 ； TSC2 ； Phenotype
- From: Journal of Apoplexy and Nervous Diseases 2020;37(9):782-786
- CountryChina
- Language:Chinese
- Abstract: Objective To explore the relationship between gene mutation types and clinical phenotypes in patients with tuberous sclerosis complex accompanied by epilepsy. Methods TSC gene was detected in patients with tuberous sclerosis accompanied by epilepsy diagnosed in Guangdong Sanjiu brain hospital from October 2013 to October 2019.The patients with gene positive were genotyped and the clinical data of the patients with gene positive were collected to explore the relationship between different gene mutation types and clinical phenotypes. Results 85 patients were TSC gene positive，of which 34 （40.0%） were TSC1 gene mutation in which 4 （11.8%） were splice mutation，10 （29.4%） were frameshift mutation，4 （11.8%） were nonsense mutation and 16 （47.0%） were missense mutation. 51 （60.0%） were TSC2 gene mutation，in which 3 were splice mutation （5.9%），19 were frameshift mutation （37.3%），1 was nonsense mutation （1.9%），25 were missense mutation （49.0%） as well as 3 were large fragment deletion （5.9%）. The mutation rate of frameshift mutation and missense mutation was higher. The age of onset was divided into ≤ 1 year old，～3 years old，～6 years old，～18 years old and >18 years old. It was found that there were significant differences in TSC1 and TSC2 genes among different age of onset （P<0.05）. At the same time，the incidence of renal disease and mental retardation was statistically significant in TSC1 and TSC2 genes （P<0.05 respectively）. In addition，according to the type of gene mutation，the patients were divided into three groups：frameshift mutation group，missense mutation group and other mutations （including splice mutation，nonsense mutation and large fragment deletion） group. It was found that the incidence of heart disease was significantly different in different gene mutation types （P<0.05 respectively）. Conclusion There were many different types of TSC1 and TSC2 gene mutation types and clinical phenotypes. The onset age of TSC2 mutation is younger and more prone to have kidney disease and mental retardation. Missense mutations are more likely to develop heart disease. The study of genotype-phenotype relationship can make a preliminary assessment of disease development and prognosis in TSC patients.
- Full text:2024073121493732312Study on the relationship between gene mutation types and clinical phenotypes in patients with tuberous sclerosis complex accompanied by epilepsy.pdf
