COL2A1基因突变致彝族Stickler综合征家系的表型及基因型特点分析  

Phenotypic and genotypic characteristics of a Yi ethnic family with Stickler syndrome caused by COL2A1 gene mutation

作　　者：师美玉 张亚娟 王纹姬[1] 赵洪超[1] 马彬斌 陈艳芳[1] 王翔 杨红 Shi Meiyu;Zhang Yajuan;Wang Wenji;Zhao Hongchao;Ma Binbin;Chen Yanfang;Wang Xiang;Yang Hong(Department of Ophthalmology,People's Hospital of Yuxi City,Yuxi Yunnan 653100,China;Dali University,Dali Yunnan 671000,China;Emergency Trauma Center,People's Hospital of Yuxi City,Yuxi Yunnan 653100,China)

机构地区：[1]玉溪市人民医院眼科,云南玉溪653100 [2]大理大学,云南大理671000 [3]玉溪市人民医院急诊创伤中心,云南玉溪653100

出　　处：《眼科》2025年第2期142-145,共4页Ophthalmology in China

基　　金：云南省科技厅-昆明医科大学应用基础研究联合专项-面上项目(202101AY070001-201)。

摘　　要：目的探讨一彝族Stickler综合征家系基因型与表型特点。设计回顾性病例系列。研究对象一Stickler综合征6例彝族家系成员。方法对患者进行详细的眼科检查,抽取家系成员外周静脉血,提取DNA,应用二代测序技术进行致病基因筛查,采用Sanger测序进行验证及家系共分离分析,确定致病性变异位点,并探讨Stickler相关基因变异与临床特征的关系。主要指标致病基因变异、眼部临床表现,全身表现。结果该家系成员临床特点主要包括高度近视3例、视网膜脱离2例,面中部扁平3例、低鼻梁3例;基因测序发现先证者及其该家系其他4例家系成员存在COL2A1基因的c.2794C>T(P)杂合变异,而表型正常的外祖母未发现该变异。结论该Stickler家系存在COL2A1基因的c.2794C>T(P)杂合变异,表现为高度近视、视网膜脱离及面中部扁平、低鼻梁。Objective To explore the genotypic and phenotypic characteristics of a Yi ethnic family with Stickler syndrome.Design Retrospective case series.Participants Six members of a Yi ethnic family with Stickler syndrome.Methods Detailed ophthalmic examinations were performed on the patients.Peripheral venous blood was collected from family members,and DNA was extracted.Pathogenic gene screening was conducted using next-generation sequencing technology.Sanger sequencing was employed for validation and family co-segregation analysis to identify pathogenic variant sites.The relationship between Stickler syndrome-associated gene variants and clinical features was investigated.Main Outcome Measures Pathogenic gene variants,ocular clinical manifestations,and systemic manifestations.Results The clinical features of the Stickler syndrome patients in this family included high myopia(3 cases),retinal detachment(2 cases),midface flattening(3 cases),and low nasal bridge(3 cases).Genetic sequencing revealed a heterozygous variant in the COL2A1 gene(c.2794C>T,p.)in the proband and four other affected family members,while this variant was absent in the phenotypically normal grandmother.Conclusion This Stickler syndrome family carries a heterozygous variant in the COL2A1 gene(c.2794C>T,p.),presenting with high myopia,retinal detachment,midface flattening,and low nasal bridge.(Ophthalmol CHN,2025,34:142-145)

关 键 词：COL2A1基因突变 Stickler综合征 

分 类 号：R74[医药卫生—神经病学与精神病学]