一例结节性硬化症患儿的基因诊断

Gene diagnosis for a child with tuberous sclerosis

目的探明1例结节性硬化症患儿的致病基因突变。方法针对TSCl、TSC2基因突变高发的11个外显子设计扩增引物，并对患儿及父母外周血基因组DNA进行扩增。对扩增产物进行DNA测序，对测序结果进行序列比对及生物信息学分析。结果发现患儿TSC2基因C．4493G〉C单碱基杂合突变，该突变导致第1498位编码氨基酸从丝氨酸变为苏氨酸（P．Serl498Thr）。父母TSC2基因相应位置未检测到突变。结论TSC2基因c．4493G〉C单碱基错义突变可能是该结节性硬化症患儿的致病突变，该突变系新发突变。

Objective To identify the pathogenic mutation in a family affected with tuberous sclerosis. Methods For the proband and its parents, mutational hotspots in the 11 exons of TSC1 and TSC2 gene were analyzed with DNA sequencing and hioinformatics tools. Results A heterozygous c. 4493 G〉C missense mutation was identified in the proband. The same mutation was however not found in the parents. Conclusion The missense mutation c. 4493 G〉C probably underlie the tuberous sclerosis complex seen in the child.