GLI3基因新发突变致多指（趾）畸形一家系

目的 对1个先天性多指（趾）畸形家系进行GLI家族锌指3基因（GLI3）突变分析，进一步丰富GLI3的突变谱。方法 收集1例临床诊断为多指（趾）畸形的患儿资料，提取患儿外周血DNA，应用全外显子测序方法检测与患儿症状相关的致病基因，并在家系其他成员中应用Sanger测序进行验证。结果 该家系中包括患儿在内的4位多指（趾）畸形患者位于7p14.1的GLI3基因存在c.2783delG（p.Arg928Profs24X）框移突变。在该家系的正常成员中未检测到该位点突变。经查询HGMD、Clinvar及dbSNP数据库均未见相关报道。该病例多指（趾）畸形诊断明确，其突变位 点为新突变。GLI3基因的c.2783delG（p.Arg928Profs24X）框移突变可能为该家系的发病原因。结论 本研究发现新发突变 GLI3［c.2783delG（p.Arg928Profs24X）］，进一步丰富了 GLI3基因的突变谱，为深入研究多指（趾）畸形的发病机制提供了新的内容。

A novel mutation of GLI3 gene underlying polydactyly in a family

Objective To analyze the mutation of GLI3 gene in a family with congenital polydactyly, and further enrich the mutant spectrum of GLI3. Methods The clinical data of one patient with polydactyly were summarized. The DNA samples of peripheral blood from the patient and his family members were extracted. Using the whole exon sequencing method to detect the disease-causing genes. Sanger sequencing was applied to verify the genes. Results In this family, the frame-shift mutation of c. 2783delG (p. arg928profs24x) in GLI3 gene located at 7p14.1 was detected in 4 patients with polydactyly. The mutation was not detected in normal members of the family. There were no related reports in HGMD,Clinvar and dbSNP. The case of polydactyly carried c. 2783delG (p. arrg928profs24x) frame-shift mutation was clearly diagnosed, and the mutation locus was a new mutation of GLI3 gene. Conclusion The discovery of the new mutation further enriches the mutant spectrum of GLI3 gene, which provides a new direction for the study of polydactyly.