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

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

doi:10.1038/s41439-023-00239-8

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

Hum Genome Var. 2023 Mar 24;10(1):9. doi: 10.1038/s41439-023-00239-8.

Authors

Hazuki Morikawa^{1

2}, Sachiko Nishina³, Kaoruko Torii⁴, Katsuhiro Hosono⁴, Tadashi Yokoi¹, Chika Shigeyasu^{1

5}, Masakazu Yamada^{1

5}, Motomichi Kosuga⁶, Maki Fukami⁷, Hirotomo Saitsu⁸, Noriyuki Azuma¹, Yuichi Hori², Yoshihiro Hotta⁴

Affiliations

¹ Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.
² Department of Ophthalmology, Toho University Graduate School of Medicine, Tokyo, Japan.
³ Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan. nishina-s@ncchd.go.jp.
⁴ Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
⁵ Department of Ophthalmology, Kyorin University, Tokyo, Japan.
⁶ Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
⁷ Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
⁸ Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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.

Grants and funding

FC001055/ARC_/Arthritis Research UK/United Kingdom