A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.
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ABSTRACT:
SUBMITTER: Morikawa H
PROVIDER: S-EPMC10039048 | biostudies-literature | 2023 Mar
REPOSITORIES: biostudies-literature
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A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.
Morikawa Hazuki H Nishina Sachiko S Torii Kaoruko K Hosono Katsuhiro K Yokoi Tadashi T Shigeyasu Chika C Yamada Masakazu M Kosuga Motomichi M Fukami Maki M Saitsu Hirotomo H Azuma Noriyuki N Hori Yuichi Y Hotta Yoshihiro Y
Human genome variation 20230324 1
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. ...[more]
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