三亚地区9例XLH患儿的临床表型与基因突变分析  

Analysis of clinical phenotype and gene mutation in 9 children with XLH in Sanya area

作　　者：孙娜 陈爱华[1] 杨瑰艳 陈求珠 莫李媚 SUN Na;CHEN Aihua;YANG Guiyan;CHEN Qiuzhu;MO Limei(Sanya City Womenfolk&Infant Health Care Hospital,Sanya,Hainan 572000,China)

机构地区：[1]三亚市妇幼保健院,湖南三亚572000

出　　处：《中国优生与遗传杂志》2021年第4期538-541,共4页Chinese Journal of Birth Health & Heredity

基　　金：三亚市医疗卫生科技创新项目(No.2018YW21)。

摘　　要：目的了解三亚地区X-连锁显性遗传性佝偻病(XLH)患儿致病基因的突变频率与突变类型,进而发现突变热点可能与基因型和临床表型的相关性。方法对三亚地区9例XLH患儿的临床资料进行回顾性分析,统计其基因突变频率并评估其基因突变类型及其与疾病严重程度之间的关系。结果在来自三亚地区的9例XLH患儿中,"O"形腿6例,"X"形腿3例,且均以活动性佝偻病征象、低磷血症为主要临床特征,且都检测出PHEX基因突变(100%)。其中,错义突变6例(66.67%),拼接位点突变1例(11.11%),框移突变及无义突变各1例(11.11%),未发现新突变。另外,PHEX基因的突变类型及其突变位点与其患儿的矮小和腿弯程度之间均没有关联性(均P>0.05),但随着患儿年龄的增长其矮小和腿弯程度出现逐渐加重。结论活动性佝偻病征象和低磷血症是三亚地区XLH患儿共同的临床典型特征,且基因突变频率很高,错义突变是其最常见的基因突变类型,其疾病的严重程度与其PHEX基因的突变类型和突变位置均无相关性,但年龄可能是其相关因素。Objective To understand the mutation frequency and mutation type of pathogenic genes in X-linked hypophosphatemic rickets(XLH)children in Sanya area,and then to find the possible mutation hot spots and the correlation between genotype and clinical phenotype.Methods The clinical data of 9 children with XLH in Sanya area were retrospectively analyzed,and the frequency of gene mutation was counted and the relationship between gene mutation types and disease severity was evaluated.Results In 9 XLH children from Sanya area,there were 6 cases of"O"leg and 3 cases of"X"leg.The main clinical feature of active rickets and hypophosphatemia.And PHEX gene mutation was detected in all of them(100%).Among them,6 cases of missense mutation(66.67%),1 cases of splicing site mutation(11.11%),1 case of frame shift mutation(11.11%)and 1 case of nonsense mutation(11.11%).No new mutated genes were found in this study.Besides,there was no correlation between the type of PHEX gene mutation and its mutation site and the degree of short stature and leg bending in children(both P>0.05).However,with the growth of the age of children with short stature and the degree of leg curvature gradually increased.Conclusion Signs of active rickets and hypophosphatemia were the common clinical characteristics of XLH children in Sanya area.The mutation frequency is very high,and missense mutation is the most common type of gene mutation.The severity of the disease has no correlation with the mutation type and location of PHEX gene.But age may be a related factor.

关 键 词：X-连锁显性遗传性佝偻病 临床表型 基因突变 

分 类 号：R725.8[医药卫生—儿科]