摘要目的:分析1例经典型Ehlers-Danlos综合征患儿的致病基因突变。方法:分析患儿临床资料，收集患儿及父母的外周血样本，提取基因组DNA，采用全外显子测序技术获取COL5A1基因变异信息，再用Sanger测序法对患儿及其父母DNA进行双向验证。结果:患儿男，13岁，出生后皮肤弹性过度，脆弱，触感柔软，在接受轻微外力后出现红肿破溃，伤口愈合能力差，愈合后遗留萎缩性瘢痕；关节过度活动，肌张力减退，运动发育迟缓，易疲劳。基因突变分析显示，患儿COL5A1基因发生新发杂合无义突变c.196C>T（p.Arg66Ter）。根据美国医学遗传学与基因组学学会遗传变异分类标准，该突变判断为致病性突变。患儿父母未携带该突变。结论:COL5A1基因新发杂合无义突变c.196C>T（p.Arg66Ter）是本例经典型Ehlers-Danlos综合征患儿的致病性突变。

abstractsObjective:To analyze pathogenic gene mutations in a patient with classical Ehlers-Danlos syndrome.Methods:Clinical data from the child were analyzed. Peripheral blood samples were collected from the child and his parents, and genomic DNA was extracted. Whole-exome sequencing was performed to assess COL5A1 gene variations, and Sanger sequencing to bidirectionally verify the mutations in the patient and his parents.Results:The 13-year-old male patient presented with hyperextensible, fragile, and soft skin after birth, and experienced redness, swelling and ulceration after receiving mild external force, with poor wound healing capacity and residual atrophic scars after healing; he also had joint hypermobility, decreased muscle tone, and delayed motor development, and was prone to fatigue. Genetic testing of the child showed a novel heterozygous nonsense mutation c.196C>T (p.Arg66Ter) in the COL5A1 gene, which was rated as a pathogenic mutation according to the American College of Medical Genetics and Genomics variant classification guidelines. Neither of the child′s parents carried the mutation.Conclusion:The novel heterozygous nonsense mutation c.196C>T (p.Arg66Ter) in the COL5A1 gene may be the pathogenic mutation for the case of classical Ehlers-Danlos syndrome.