蛋白脂蛋白1相关性疾病的基因型和表型研究进展

摘要

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.%蛋白脂蛋白1(PLP1)相关性疾病是指PLP1基因突变所致的一组临床宽泛且重叠的疾病谱系,连续的疾病谱系包括从严重脑白质病变的佩梅病(PMD,MIM# 312080)到症状相对温和的痉挛性截瘫(SPG2,MIM# 312920).PLP1相关性疾病的致病基因型处于不断发现和更新当中,其临床表型之间存在明显的异质性,同时与PLP1相关性疾病表型相似的疾病众多,因此,临床准确诊断这一组疾病存在巨大挑战.现将PLP1相关性疾病的表型和基因型及其之间的关系综述如下,希望能对临床医师诊断这一复杂谱系疾病有所帮助.