Association Of CD2AP Gene Mutation In Children With Primary Nephrotic Syndrome In Zhuang,Guangxi,China

Objective: To Analysis the mutation of CD2 AP Gene in Children with Primary Nephrotic Syndrome in in Zhuang,Guangxi,China.Methods:（1）Blood samples were collected from 155 children with primary nephrotic syndrome in zhuang,Guangxi and 98 healthy children in zhuang Guangxi.The 18 exons of cd2 ap gene in two groups of samples should be sequenced by the second generation sequencing technique.The detected SNV/indel was compared with the newly published population database,functional database,disease database and other known information to evaluate the pathogenicity,functional characteristics and mutation frequency of the mutation site.（2）The levels of CD2 AP in serum samples of patients and normal subjects were measured by ELISA,and the data of the two groups were analyzed statistically.Results:（1）The results of sequencing showed that 6 hybrid CD2 AP pathogenic mu tations were found in 155 diseased groups,c.29A>G:p.Y10C、c.421-13T>C、c.1207A>G:p.R403G、c.1517A>G:p.N506S、c.1855₁856del:p.K619 fs these mutations were found b y 5 different patients,c.1531-15T>A were found by 3 patients,no mutation was detected in the normal group;（2）Two new mutations were found（c.421-13T>C、 c.1855₁856d el:p.K619fs）;（3）The serum concentration of CD2 AP in the normal group was 204.10（124.60,358.00）pg/mL and the level of CD2 AP in the disease group was 83.40（37.90,208.83）pg/mL(Z =-5.094（P < 0.001）,the disease group was significantly lower t han normal group.Conclusion:（1）Mutation of CD2 AP Gene exist in Children with Primary Nephroti c Syndrome in Zhuang Guangxi,four exon mutations（c.29A>G、c.1207A>G、c.1517A>G、c.1855₁856del）were considered to be pathogenic mutations.The c.1855₁856del was a newly discovered pathogenic mutation,there were two intron mutations（c.421-13T>C、c.1531-15T>A）,the pathogenicity of the newly discovered mutation（c.421-13T>C）rema ined elusive,the c.1531-15T>A might be associated with the onset of PNS;（2）The hig h detection rate of CD2 AP mutation in fsgs patients was different from that reported i n domestic and foreign literatures.In Zhuang population,no CD2 AP mutation was det ected in 47 FSGS patients,there were ethnic and regional differences in the distributio n of CD2 AP gene mutation;（3）The concentration of serum CD2 AP in the sick group was significantly lower than normal group,These results suggest that CD2 AP might be a protective protein in the patients with primary nephrotic syndrome.It might play a protective role in kidney by regulating cellular immunity and podocyte apoptosis.