一例由DCN基因新型变异c.953del引起的先天性基质性角膜营养不良儿科病例。
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.
作者信息
Morikawa Hazuki, Nishina Sachiko, Torii Kaoruko, Hosono Katsuhiro, Yokoi Tadashi, Shigeyasu Chika, Yamada Masakazu, Kosuga Motomichi, Fukami Maki, Saitsu Hirotomo, Azuma Noriyuki, Hori Yuichi, Hotta Yoshihiro
机构信息
Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.
Department of Ophthalmology, Toho University Graduate School of Medicine, Tokyo, Japan.
出版信息
Hum Genome Var. 2023 Mar 24;10(1):9. doi: 10.1038/s41439-023-00239-8.
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.
我们报告了一名1岁女童，经基因分析确诊患有先天性基质性角膜营养不良。眼部表型包括双侧角膜基质弥漫性混浊。我们进行了基因分析，以便就复发率向患儿父母提供咨询。对患儿及其父母进行了全外显子组测序，在患儿中发现了DCN基因中的一个新的从头变异，NM_001920.5:c.953del，p.(Asn318Thrfs*10)。
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