罕见眼科综合征的遗传变异:巴西Stickler综合征2型家族的新型COL11A1剪接位点变异

IF 1.2 Q3 OPHTHALMOLOGY
Journal of Current Ophthalmology Pub Date : 2025-06-05 eCollection Date: 2024-07-01 DOI:10.4103/joco.joco_9_24
Pedro Filipecki Mansilla, Vagner Loduca Lima, Gustavo Henrique Araújo Salomão, Denise Maria Christofolini
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引用次数: 0

摘要

目的:对一个具有提示Stickler综合征(STL)临床和眼科表型的家族进行遗传学研究,并分析其分子表现与眼科、临床特征和家族史的关系。方法:采用眼底镜检、裂隙灯摄影、眼生物测量等诊断方法对指数患者及其家属进行专业眼科评价。基因组测序遗传评价(WGS)是描述先证者的基因型特征,并通过家族特异性变异测序(NGS)证实这一发现。结果:遗传评估表明,在三个受影响家庭成员COL11A1外显子41后的内含子区域存在一种新的致病变异NM_001854.4: C.3168+1G> a (chr1:102961865-102961865)。该变异位于该外显子自然剪接区1个碱基之外,因此可以影响内含子的去除和蛋白质的形成。在眼科方面,指数病例可见低视力、高轴性近视,病理性玻璃体凝胶呈“珠状”外观。进一步的临床检查显示其他家庭成员也有玻璃体和视网膜变性。结论:通过全基因组测序,在巴西STL家族中发现了COL11A1的一种杂合新型致病变异。眼部检查结果证实STL 2型的特征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Variants in Rare Ophthalmological Syndromes: Novel COL11A1 Splice Site Variant in a Brazilian Family with Stickler Syndrome Type 2.

Purpose: To genetically investigate a family with a clinical and ophthalmological phenotype suggestive of Stickler syndrome (STL) and the association of molecular findings with ophthalmological, clinical characteristics, and family history.

Methods: Specialized ophthalmologic evaluation using diagnostic methods such as fundoscopy, slit-lamp photography, and ocular biometry to describe the phenotypic characteristics of the index patient and family members. Genetic evaluation with genome sequencing (WGS) is to describe the genotypic characteristics of the proband and confirmation of the finding by family-specific variant sequencing (NGS).

Results: Genetic evaluation demonstrated the presence of a novel pathogenic variant NM_001854.4: C.3168+1G>A (chr1:102961865-102961865), in the intronic region that follows exon 41 of the COL11A1 in the three affected members of the family. This variant is located 1 base from the natural splicing region of this exon and consequently can impact intron removal and protein formation. As for the ophthalmological findings, the presence of low visual acuity, high axial myopia, and pathological vitreous gel with a "beaded" appearance was observed in the index case. Further clinical examination showed that other family members also had vitreous and retinal degeneration.

Conclusions: A heterozygous novel pathogenic variant in COL11A1 was identified by complete genome sequencing in a Brazilian family with STL. Ocular examination findings photographically presented confirm the characteristic features of STL type 2.

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来源期刊
CiteScore
2.50
自引率
6.70%
发文量
45
审稿时长
8 weeks
期刊介绍: Peer Review under the responsibility of Iranian Society of Ophthalmology Journal of Current Ophthalmology, the official publication of the Iranian Society of Ophthalmology, is a peer-reviewed, open-access, scientific journal that welcomes high quality original articles related to vision science and all fields of ophthalmology. Journal of Current Ophthalmology is the continuum of Iranian Journal of Ophthalmology published since 1969.
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