PURPOSE:To report a new ocular manifestation of the dup22q11 syndrome and explore involved genes that may offer insight to mechanisms of pathogenesis. DESIGN:Case series. PARTICIPANTS:Two male patients with this syndrome diagnosed with dup22q11.2. METHODS:Medical records were reviewed. Duplication was detected in the oligo-single nucleotide polymorphism chromosomal microarray and duplicated genes within the segment where determined by literature and database review. Potential associations between the ophthalmologic manifestations and their physiopathology were investigated. MAIN OUTCOME MEASURES:Microarray results and identification of candidate genes within the duplicated segment. RESULTS:Our patients demonstrate previously unreported findings of dup22q11.2, including Marcus Gunn jaw winking, Duane's retraction syndrome, and other abnormal eye movements consistent with a congenital cranial dysinnervation disorder (CCDD), retinal vascular tortuosity, and primary infantile glaucoma. The duplicated segment in case 1 includes SNAP29, which could be linked with the development of retinal vascular tortuosity, and MAPK1, which seems to play a role in axonal development through the semaphorin pathway, which may serve as a candidate gene for CCDD. In case 2, the CLDN5 gene is within the duplicated segment. CLDN5 could be involved in the pathophysiology of glaucoma. CONCLUSIONS:Our cases expand the ocular phenotype for duplication of 22q11 and serve to identify potential candidate genes for the development of CCDD, retinal vascular tortuosity, and glaucoma.

译文

目的:报告dup22q11综合征的一种新的眼部表现,并探索可能为发病机理提供洞察力的相关基因。
设计:案例系列。
对象:两名患有此综合征的男性患者,被诊断出患有dup22q11.2。
方法:对病历进行回顾。在寡-单核苷酸多态性染色体微阵列中检测到重复,并通过文献和数据库综述确定了该片段内的重复基因。研究了眼科表现与其生理病理之间的潜在关联。
主要观察指标:芯片结果和重复片段内候选基因的鉴定。
结果:我们的患者证明了dup22q11.2以前未报告的发现,包括Marcus Gunn下颌眨眼,Duane的回缩综合征以及其他与先天性颅神经失调症(CCDD),视网膜血管曲折和原发性婴儿青光眼一致的异常眼球运动。案例1中的重复片段包括SNAP29(可能与视网膜血管曲折的发展有关)和MAPK1(似乎通过信号灯途径在轴突发育中起作用),它可能是CCDD的候选基因。在情况2中,CLDN5基因在重复的片段内。 CLDN5可能与青光眼的病理生理有关。
结论:我们的病例扩大了眼表型以重复22q11,并有助于确定潜在的候选基因,以发展CCDD,视网膜血管曲折和青光眼。

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