Research progress of genotype and phenotype in proteolipid protein 1-related disorders / 中华实用儿科临床杂志

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.