目的 对我国一个短指家系进行致病基因进行鉴定。方法 应用全外显子测序对该短指家系进行基因突变检测,并用Sanger测序对突变位点进行验证。结果 该家系共有3名患者,均为短指表型,符合常染色体显性遗传。全外显子检测提示患者均存在GNAS基因(NM＿001077488:exon13:c.A1145T:p.D382V)杂合错义突变,Sanger测序验证与全外显子结果一致。结论 GNAS基因第13号外显子上c.A1145T杂合错义突变是该短指家系的致病原因。

Objective To identify pathogenic mutation in a Chinese pedigree affected by brachydactyly.Methods The mutation was identified by whole exome sequencing(WES)and confirmed by Sanger sequencing.Results There were 3 brachydactyly patients in this pedigree,which was autosomal dominant inheritance.WES revealed a heterozygous missense mutation within GNAS gene(NM_001077488:exon13:c.A1145T:p.D382V).This mutation was verified by Sanger sequencing.Conclusion The heterozygous missense GNAS mutation(c.A1145T)causes the brachydactyly in this pedigree.