GLI3基因新突变导致多指（趾）并指（趾）畸形一家系

A novel mutation of GLI3 gene underlying synpolydactyly in a family

目的对1个先天性多指（趾）并指（趾）畸形（synpolydactyly）家系进行GLI3基因的突变分析。方法应用Sanger法检测先证者GLI3基因的突变，并在家系其他成员及100名正常对照中进行验证。结果测序显示该家系中的3例患者均发生了GLI3基因的C．480dupC（P．Alal6lfs）杂合移码突变，导致其蛋白质产物从第161位氨基酸开始编码紊乱。在该家系的正常成员以及100名无亲缘关系的正常对照中未检测到同样的突变。结论GLI3基因C．480dupC（P．Alal61fs）杂合突变可能为该家系的发病原因。上述突变的发现进一步丰富了GLI3基因的突变谱。

Objective To detect mutation of GLI3 gene in a family affected with autosomal dominant synpolydactyly. Methods Genomic DNA was extracted from peripheral blood samples from members of the family and 100 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and confirmed by Sanger sequencing. Results A heterozygous frameshift mutation c. 480dupC was identified in the GLI3 gene among all patients from the family. The same mutation was not found in unaffected family members and the 100 healthy controls. Conclusion The c. 480dupC of the GLI3 gene probably underlies the synpolydactyly in this family.