一例由 DCN 基因新型变异体 c.953del 引起的小儿先天性角膜基质营养不良症。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2023-03-24 DOI:10.1038/s41439-023-00239-8

Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Katsuhiro Hosono, Tadashi Yokoi, Chika Shigeyasu, Masakazu Yamada, Motomichi Kosuga, Maki Fukami, Hirotomo Saitsu, Noriyuki Azuma, Yuichi Hori, Yoshihiro Hotta

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引用次数: 0

摘要

我们报告了一名经基因分析证实患有先天性角膜基质营养不良症的 1 岁女孩。她的眼睛表型包括双侧角膜基质弥漫性混浊。我们进行了基因分析，以便就复发率问题为其父母提供咨询。我们对她和她的父母进行了全外显子组测序，发现患者的 DCN 基因中存在一个新变异，即 NM_001920.5：c.953del, p.(Asn318Thrfs*10)。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

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A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks