Recent advance in relation between mutations in tubulin gene and malformations of coetical development
10.3760/cma.j.issn.1671-8925.2016.11.021
- VernacularTitle:微管蛋白基因突变与大脑皮质发育畸形关系的研究进展
- Author:
Jing ZHOU
1
;
Xuelin XIA
Author Information
1. 西南医科大学附属医院神经内科
- Keywords:
Malformation of cortical development;
Tubulin;
Gene mutation
- From:
Chinese Journal of Neuromedicine
2016;15(11):1182-1184
- CountryChina
- Language:Chinese
-
Abstract:
In recent years,with the progress of the technology in genetics,imaging and molecular biology,the study of malformation of cortical development (MCD) has gradually shifted from phenotype to genotype.Genetic studies of MCD have found that MCD is associated with a number of non-ion channel family genes and so far more than 100 genes have been reported to be associated with one or more kinds ofMCD.Tubulin gene is one of the important categories,and it has been found that can lead to mcrolissencephaly,lissencephaly or polymicrogyria of MCD.Based on these three key links of MCD,we will review the relationship between the diseases and the tubulin genes from many aspects.
