先天性肾病综合征儿童的NPHS1基因突变分析  

Mutation of NPHS1 gene in a Chinese child with congenital nephrotic syndrome

作　　者：付荣[1] 吴清岩[1] 徐纪香[1] 缑梦帆 刘娟[1] 同少峰[1] 刘雪杰[1] 郭辉[1] 和俊杰[1] 

机构地区：[1]河南省濮阳市油田总医院儿科,河南濮阳457001

出　　处：《解放军医学杂志》2015年第7期578-581,共4页Medical Journal of Chinese People's Liberation Army

摘　　要：目的分析先天性肾病综合征(CNS)患儿的NPHS1基因突变及其特点。方法研究对象为1例中国中部地区汉族CNS患儿及其父母,对照人群为50例尿检正常的汉族成年人。取所有研究对象外周静脉血3ml,提取基因组DNA,PCR扩增NPHS1和NPHS2基因全部外显子及其周围的部分内含子序列,对PCR产物进行直接DNA序列测定。结果在CNS患儿中未检出NPHS2基因突变,检测出NPHS1基因的G928A(D310N)和IVS11+1 G>A 2个杂合突变。患儿母亲尿检正常,基因检测显示NPHS1的G928A(D310N)杂合突变,没有IVS11+1 G>A杂合突变;患儿父亲尿检也正常,基因检测显示NPHS1的IVS11+1 G>A杂合突变,而没有G928A(D310N)杂合突变。在50例对照人群中未发现NPHS1的G928A(D310N)和(或)IVS11+1 G>A突变。结论 1例散发性CNS患儿中检测到NPHS1基因的G928A(D310N)和IVS11+1G>A 2个杂合突变,且IVS11+1 G>A为NPHS1基因剪接位点新突变。CNS患儿应进行NPHS1基因突变分析。Objective To analyze the mutations and characteristics of NPHS1 and NPHS2 genes in a child with congenital nephrotic syndrome（CNS）. Methods Mutation analysis was made for all exons and exon/intron boundaries of NPHS1 and NPHS2 genes in a child and his parents as well as 50 unrelated adults with normal urine test results as control using PCR and direct sequencing techniques. Results No mutation of NPHS2 gene was detected, while a novel splice site mutation of IVS11＋1GA within intron 11 and a missense mutation within exon 8（c.928GA） in NPHS1 gene were detected in the child with CNS. Urinalysis was normal in child＇s mother, and it was found that c.928GA（D310N） but no IVS11＋1GA heterozygous mutation, and his father was shown to have a normal urinalysis results, and the result of gene examination was IVS11＋1GA, but without c.928GA（D310N） heterozygous mutation. All these IVS11＋1 GA and c.928GA（D310N） mutations were not found in the 50 unrelated controls. Conclusions Two heterozygote mutations IVS11＋1 GA and c.928GA in the NPHS1 gene have been identified in a child with CNS in the central region of China. The splice site mutation of IVS11＋1 GA is an novel genetic defect of CNS. It is necessary to look for mutations in NPHS1 gene in the children with CNS.

关 键 词：肾病综合征 基因 NPHS1 突变 

分 类 号：R692[医药卫生—泌尿科学]