Stickler syndrome is a connective tissue disorder that affects multiple systems, including the visual system. Seven genes were reported to cause Stickler syndrome in patients with different phenotypes. In this study, we aimed to evaluate the mutation features of the phenotypes of high myopia and retinal detachment. Forty-two probands diagnosed with Stickler syndrome were included. Comprehensive ocular examinations were performed. A targeted gene panel test or whole exome sequencing was used to detect the mutations, and Sanger sequencing was conducted for verification and segregation analysis. Among the 42 probands, 32 (76%) presented with high myopia and 29 (69%), with retinal detachment. Pathogenic mutations were detected in 35 (83%) probands: 27 (64%) probands had COL2A1 mutations, and eight (19%) probands had COL11A1 mutations. Truncational mutations in COL2A1 were present in 21 (78%) probands. Missense mutations in COL2A1 were present in six probands, five of which presented with retinal detachment. De novo COL2A1 mutations were detected in 10 (37%) probands, with a mean paternal childbearing age of 29.64 ± 4.97 years old. The mutation features of probands with high myopia or retinal detachment showed that the probands had a high prevalence of COL2A1 mutations, truncational mutations, and de novo mutations.

中文翻译：

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高度近视或视网膜脱离Stickler综合征患者的突变谱和新发突变分析

Stickler 综合征是一种结缔组织疾病，会影响多个系统，包括视觉系统。据报道，有 7 种基因会在不同表型的患者中引起 Stickler 综合征。在本研究中，我们旨在评估高度近视和视网膜脱离表型的突变特征。包括 42 名被诊断为 Stickler 综合征的先证者。进行了全面的眼科检查。使用靶向基因panel测试或全外显子组测序检测突变，并进行Sanger测序进行验证和分离分析。在 42 名先证者中，32 人（76%）有高度近视，29 人（69%）有视网膜脱离。在 35 名（83%）先证者中检测到致病突变：27 名（64%）先证者有 COL2A1 突变，8 名（19%）先证者有 COL11A1 突变。COL2A1 的截断突变存在于 21 名 (78%) 先证者中。COL2A1 中的错义突变存在于六名先证者中，其中五名表现为视网膜脱离。在 10 名 (37%) 先证者中检测到从头 COL2A1 突变，平均父亲生育年龄为 29.64 ± 4.97 岁。高度近视或视网膜脱离先证者的突变特征表明，先证者COL2A1突变、截断突变和新发突变的发生率较高。