一先天性并指畸形家系的临床治疗及致病基因分析

The clinical trealment and pathogenic gene analysis of a Chinese family with synpolydactyly

目的对一个先天性并指畸形家系的先证者进行手术治疗，并进行致病基因的筛查和鉴定，确定这个家系中的候选基因是否存在突变及突变位点。方法根据家族史、临床体征对一个并指畸形的临床表型家系进行临床诊断，给予先证者手术治疗及术后功能锻炼，同时采集家系成员的外周血，提取基因组DNA，对该家系成员候选致病基因进行筛查。结果该家系中的先证者接受了积极的临床治疗，功能和外观都得到良好改善，疗效满意。该家系2例患者的HOXD13发现突变，且皆为同一突变位点，对照组未发现HOXD13基因变异。结论并指畸形患者需要积极进行相应的手术治疗，HOXDl3是该家系的致病基因。

Objective To screen and identify disease genes of the propositus of the synpolydactyly family in order to determine whether there was mutation of candidate genes in the family and its loci. Methods Base on family history, clinical signs, and clinical phenotype, diagnosis of familial synpolydactyly was made. The propositus underwent surgical treatment and postoperative functional exercises. Peripheral blood samples of family members were collected to extract genomic DNA. Polymerase chain reaction and direct sequencing technology were apphed to screen candidate genes of the family members and determine gene mutations. Results Active treatment of the propesitus in the family improved the function and appearance of the hand. The clinical results were satisfactory. Mutations of the HOXD13 gene were found in two family members with the same mutation loci. No mutations of the GJA1, LMBR1 and SHH genes were found. No mutations in HOXD13, GJA1, LMBR1 and SHH genes were found in the control group. Conclusion Synpolydactyly patients need proactive surgical treatment. HOXD13 is the mutant gene in the family.