Abstract

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.

Details

Title
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene
Author
Morikawa, Hazuki 1 ; Nishina, Sachiko 2 ; Torii, Kaoruko 3 ; Hosono, Katsuhiro 3   VIAFID ORCID Logo  ; Yokoi, Tadashi 2 ; Shigeyasu, Chika 4 ; Yamada, Masakazu 4 ; Kosuga, Motomichi 5 ; Fukami, Maki 6   VIAFID ORCID Logo  ; Saitsu, Hirotomo 7   VIAFID ORCID Logo  ; Azuma, Noriyuki 2 ; Hori, Yuichi 8 ; Hotta, Yoshihiro 3   VIAFID ORCID Logo 

1  National Center for Child Health and Development, Division of Ophthalmology, Tokyo, Japan (GRID:grid.63906.3a) (ISNI:0000 0004 0377 2305); Toho University Graduate School of Medicine, Department of Ophthalmology, Tokyo, Japan (GRID:grid.265050.4) (ISNI:0000 0000 9290 9879) 
2  National Center for Child Health and Development, Division of Ophthalmology, Tokyo, Japan (GRID:grid.63906.3a) (ISNI:0000 0004 0377 2305) 
3  Hamamatsu University School of Medicine, Department of Ophthalmology, Hamamatsu, Japan (GRID:grid.505613.4) (ISNI:0000 0000 8937 6696) 
4  National Center for Child Health and Development, Division of Ophthalmology, Tokyo, Japan (GRID:grid.63906.3a) (ISNI:0000 0004 0377 2305); Kyorin University, Department of Ophthalmology, Tokyo, Japan (GRID:grid.411205.3) (ISNI:0000 0000 9340 2869) 
5  National Center for Child Health and Development, Division of Medical Genetics, Tokyo, Japan (GRID:grid.63906.3a) (ISNI:0000 0004 0377 2305) 
6  National Research Institute for Child Health and Development, Department of Molecular Endocrinology, Tokyo, Japan (GRID:grid.63906.3a) (ISNI:0000 0004 0377 2305) 
7  Hamamatsu University School of Medicine, Department of Biochemistry, Hamamatsu, Japan (GRID:grid.505613.4) (ISNI:0000 0000 8937 6696) 
8  Toho University Graduate School of Medicine, Department of Ophthalmology, Tokyo, Japan (GRID:grid.265050.4) (ISNI:0000 0000 9290 9879) 
Pages
9
Publication year
2023
Publication date
2023
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-023-00239-8
ProQuest document ID
2790209189
Copyright
© The Author(s) 2023. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.