Research progress of genotype and phenotype in proteolipid protein 1-related disorders
10.3760/cma.j.issn.2095-428X.2014.24.002
- VernacularTitle:蛋白脂蛋白1相关性疾病的基因型和表型研究进展
- Author:
Xiaotun REN
- Publication Type:Journal Article
- Keywords:
Proteolipid protein 1-related disorders;
Pelizaeus-Merzbacher disease;
Spastic paraplegia;
Gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2014;29(24):1844-1847
- CountryChina
- Language:Chinese
-
Abstract:
Proteolipid protein 1 (PLP1)-related disorders are a series rare X-linked recessive disorders caused by mutations of PLP1 gene.There is a spectrum of PLP1-related disorders from very severe connatal PelizaeusMerzbacher disease(PMD,MIM# 312080),through classical PMD to mild spastic paraplegia type 2 (SPG2,MIM# 312920),with some correlation between the type of mutation and the phenotype.The genotype of PLP1-related disorders was constantly discovered and updated,meanwhile there was obvious heterogeneous within clinical phenotypes.Moreover,there were so many diseases similar to PLP1-related disorders.Therefore,there was a huge challenge when clinician met with PLP1-related disorders.The aim of this report is to summarize correlation between the genotype and the phenotype of PLP1-related disorders,and give a help for clinician to diagnose this group complicated disorders.
