病例报告：在一对同卵双胞胎姐妹中的其中一人身上发现了一种与先天性眼睑缺损相关的新型内含子可能致病变异（c.941+75G>T）。
Case report: A novel intronic likely pathogenic variant (c.941+75G > T) associated with congenital eyelid coloboma in one of the identical twin sisters.
作者信息
Li Xin, Zhang Yuqi, Chai Gang, Su Weijie, Zhang Yan
机构信息
Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
出版信息
Front Genet. 2025 Feb 17;16:1536000. doi: 10.3389/fgene.2025.1536000. eCollection 2025.
BACKGROUND
Congenital eyelid coloboma (CEC) is a rare genetic disease, manifesting as a congenital partial or total defect of the eyelid. In this study, we report a pedigree with CEC caused by a novel pathogenic variant in .
CASE REPORT
The proband was a 3-year-old girl who presented with a congenital coloboma of the left upper eyelid, accompanied by hypoplasia of the ipsilateral eyebrow. Karyotype analysis was normal. Whole-exome sequencing (WES) identified a novel pathogenic variant in (c.941+75G > T), which was classified as a likely pathogenic (LP) and variant. To date, this variant has not been reported.
CONCLUSION
Our study found a novel pathogenic variant in (c.941+75G > T), which broadens the CEC phenotype spectrum and gene variant spectrum, providing a basis for clinical diagnosis, genetic counseling, and treatment.
背景
先天性眼睑缺损（CEC）是一种罕见的遗传性疾病，表现为先天性部分或完全性眼睑缺损。在本研究中，我们报告了一个由 中一个新的致病变异引起的 CEC 家系。
病例报告
先证者是一名 3 岁女孩，表现为左上眼睑先天性缺损，伴有同侧眉毛发育不全。核型分析正常。全外显子测序（WES）在 中鉴定出一个新的致病变异（c.941+75G>T），该变异被分类为可能致病（LP）变异。迄今为止，该变异尚未见报道。
结论
我们的研究在 中发现了一个新的致病变异（c.941+75G>T），拓宽了 CEC 的表型谱和 基因变异谱，为临床诊断、遗传咨询和治疗提供了依据。
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