目的确定中国人B1型短指/趾家系的致病基因。方法采取外周血提取DNA,LM-PCR反应,产物直接高通量测序。结果在先证者中发现ROR2基因上一个杂合移码突变:c.2310del C(P.Ser771Alafs*3)。结论本文首次报告中国人B型短指/趾家系的致病基因突变,迄今为止国内外未见关于该突变的报道。 Objective To determine the causative genes of Chinese type B1 short-to-long pedigree. Methods Peripheral blood DNA was extracted and LM-PCR reaction was performed. The product was directly sequenced by high-throughput sequencing. Results A heterozygous frameshift mutation in the ROR2 gene was found in the proband: c.2310del C (P. Ser771Alafs * 3). Conclusions This study reports for the first time the gene mutations in the Chinese B-type short-toe / toe pedigrees. So far, no reports on this mutation have been reported at home and abroad.