X-连锁低血磷性佝偻病基因型与临床表型的相关性

Genotype-phenotype correlation in X-linked hypophosphatemic rickets

X-连锁低血磷性佝偻病(X-linked hypophosphatemic rickets,XLH)是伴X染色体显性遗传的罕见病。其临床表型差异较大,即使是同一个家系,临床表现的轻重也有所差异。这可能与位于X染色体上与内肽酶同源的磷酸盐调节基因(phosphate-regulating gene with homologies to endopeptidases on X chromosome,PHEX)突变有关。本文从PHEX基因的突变类型、突变位点以及突变剂量方面,对XLH基因型和临床表型的相关性予以综述,以期为XLH的基因研究与早期临床诊疗提供依据。

X-linked hypophosphatemic rickets(XLH)is a rare disease with X chromosome dominant inheritance.The clinical phenotype is different,even in the same family,the severity of clinical manifestations is also different.This may be related to the mutations of phosphate-regulating gene with homologies to endopeptidases on X chromosome(PHEX).This article reviews the correlation between XLH genotype and clinical phenotype from the aspects of PHEX gene mutation type,mutation site and mutation dose,in order to provide a basis for the gene research and early clinical diagnosis and treatment of XLH.