X-连锁低磷性佝偻病的基因突变分析

Gene mutation analysis of X-linked hypophosphatemic rickets

摘要:

目的：研究X-连锁低磷性佝偻病（XLH）患儿致病基因的突变频率和突变类型，探讨存在突变热点的可能性及基因型与临床表型的关系。方法：回顾性分析10例XLH患儿的临床资料，评估其基因突变类型及其与疾病严重程度之间的关系。结果：10例XLH患儿均检测到PHEX基因突变，其中6例为错义突变，2例为拼接位点突变，1例为框移突变，1例为无义突变。还发现了两个新突变，即c.2048T>C 和IVS14+1delAG。PHEX基因的突变类型与矮小程度、腿弯程度之间没有关联（分别P=0.571、0.467）；基因的突变位置与矮小程度、腿弯程度之间也没有关联（分别P=0.400、1.000）。结论：错义突变是XLH患儿最常见的突变类型；c.2048T>C 和IVS14+1delAG是PHEX基因的两个新突变。PHEX基因的突变类型和突变位置与疾病的严重程度无相关性。

Abstract:

To investigate the frequency and type of PHEX gene mutations in children with X-linked hypophosphatemic rickets (XLH), the possible presence of mutational hot spots, and the relationship between genotype and clinical phenotype. Methods Clinical data of 10 children with XLH was retrospectively reviewed. The relationship between gene mutation type and severity of XLH was evaluated. Results PHEX gene mutations were detected in all 10 children with XLH, including 6 cases of missense mutation, 2 cases of splice site mutation, 1 case of frameshift mutation, and 1 case of nonsense mutation. Two new mutations, c.2048T>C and IVS14+1delAG, were found. The type of PHEX gene mutation was not associated with the degree of short stature and leg deformity (P=0.571 and 0.467), and the mutation site was also not associated with the degree of short stature and leg deformity (P=0.400 and 1.000). Conclusions Missense mutation is the most common type of PHEX gene mutation in children with XLH, and c.2048T>C and IVS14+1delAG are two new PHEX gene mutations. The type and site of PHEX gene mutation are not associated with the severity of XLH.