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目的：:研究一Stickler综合征家系的临床表型及分子遗传学特点，并确定致病基因及其突变。方法：:实验研究。对一Stickler综合征家系4代11例患者进行临床特征及系谱分析。采集该家系先证者及其他成员（患者及正常人）的外周静脉血标本，并利用高通量二代测序技术对先证者及正常对照样本行全外显子组测序（WES）分析。针对WES筛选得到的突变位点，通过Sanger测序对家系成员的其他患者及正常人进行扩大验证。结果：:该家系Stickler患者临床特点主要包括先天性高度近视、白内障、玻璃体变性、视网膜脱离以及Marfan样体型，面中部扁平、低鼻梁、短鼻、听力障碍及关节活动度大等。在该家系10例现存Stickler患者中发现n COL2A1（n NM_033150）基因c.710delG:p.G237fs杂合变异，导致开放阅读框第710位碱基G缺失，其后部序列发生移码，从而导致其蛋白翻译在第237位氨基酸残基提前终止，蛋白整体结构产生变化从而丧失其正常功能。而无Stickler病史家系成员中未发现此突变位点。n 结论：:本研究确定了1个Stickler综合征家系，并在该家系中确定了n COL2A1（n NM_033150）基因c.710delG:p.G237fs杂合变异。n “,”Objective::To study the clinical phenotype and molecular genetic characteristics of a family with Stickler syndrome, and to identify the pathogenic gene and its mutation.Methods::This was an experimental study. Clinical features and pedigree analysis were performed on 11 patients with Stickler syndrome over 4 generations. Peripheral venous blood samples were collected from the proband and other members of the family (patients and normal persons), and high-throughput second-generation sequencing technology was used to analyze the proband and normal subjects by whole exome sequencing (WES). For the mutation sites obtained by WES screening, Sanger sequencing was used to conduct expanded verification for other patients and normal people in family members.Results::The clinical characteristics of Stickler patients mainly include congenital high myopia, cataract, vitreous degeneration, retinal detachment, Marfan shape, flat middle face, low nasal bridge, short nose, hearing impairment and high range of motion. The heterozygous mutation of the n COL2A1 (n NM_033150) gene c.710delG: p.G237fs was found in 10 existing Stickler patients in this family, resulting in the deletion of the 710th base G of the open reading frame and the subsequent sequence shift, which led to the premature termination of the protein translation at the 237th amino acid residue and the loss of its normal function due to the changes in the overall structure of the protein. The mutation site was not found in family members without Stickler history.n Conclusions::A Stickler syndrome family was identified and the heterozygous mutation of the n COL2A1 (n NM_033150) gene c.710delG: p.G237fs was identified in this family.n