RESUMO
Objective To explore the mutation characteristics of neurexin 1(NRXN1)gene in children with Tourette syndrome(TS).Methods A total of 524 children with TS were enrolled.DNA extracted from peripheral blood was sequenced for NRXN1 gene by using target region sequencing which was further verified by using Sanger sequencing.DNAMAN software,SIFT,PolyPhen2,Mutation Taster,FATHMM and ClinPred were used to analyze the hazard of suspected variants.Finally,the genotype and phenotype of the patients with NRXN1 gene variants were analyzed.Results We found 13 variants of the NRXN1 gene in 13 TS patients such as 11 point mutations and 2 deletion mutations including two novel point mutations:c.79G>T(p.A27S)and c.58G>T(p.G20C).The other nine point mutations and two deletion mutations were c.3523A>G(p.I1175V),c.4180A>T(p.T1394S),c.1697A>T(p.H566L),c.3715G>A(p.A1239T),c.878A>C(p.N293T),c.475C>T(p.P159S),c.320C>T(p.T107M),c.365A>G(p.Q122R),c.611T>A(p.L204Q)c.68_79del(p.G23_G26del),c.65_79del(p.G22_G26del).Bioinformatics analysis showed that the six gene variants c.58G>T,c.1697A>T,c.475C>T,c.365A>G,c.878A>C,c.79G>T were relatively harmful.There were 6 children with different parts of the tic,1 child with obsessive-compulsive symptoms,1 child with emotional instability,3 children with irritability,6 children did not have repetitive language,attention deficit,hyperactivity disorder,sleep disorder and depression.Conclusion NRXN1 gene mutation sites are detected in TS children,which expands the NRXN1 mutation spectrum.Children with different gene variants exhibit different clinical manifestations and the relationship between genotype and phenotype need further exploration.