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

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 sequ...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10039048/
https://www.ncbi.nlm.nih.gov/pubmed/36964172
http://dx.doi.org/10.1038/s41439-023-00239-8
Descripción
Sumario: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.

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