We report a 1-year-old girl with congenital stromal corneal dystrophy confirmed by genetic analysis. The ocular phenotype included diffuse opacity over the corneal stroma bilaterally. We performed a genetic analysis to provide counseling to the parents regarding the recurrence rate. Whole exome sequencing was performed on her and her parents, and a novel de novo variant, NM_001920.5: c.953del, p.(Asn318Thrfs*10), in the DCN gene was identified in the patient.

中文翻译：

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DCN 基因新变异 c.953del 致先天性角膜基质营养不良一例

我们报告一名 1 岁女孩患有先天性角膜基质营养不良，经基因分析证实。眼表型包括双侧角膜基质上的弥漫性混浊。我们进行了遗传分析，以向父母提供有关复发率的咨询。对她和她的父母进行了全外显子组测序，并在该患者的DCN基因中发现了一个新的从头变体 NM_001920.5: c.953del, p.(Asn318Thrfs*10)。