Human Genome Variation (Mar 2023)

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
https://doi.org/10.1038/s41439-023-00239-8
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 4

Abstract

Read online

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.