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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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
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author 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
author_facet 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
author_sort Morikawa, Hazuki
collection PubMed
description 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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spelling pubmed-100390482023-03-26 A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene 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 Hum Genome Var Data Report 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. Nature Publishing Group UK 2023-03-24 /pmc/articles/PMC10039048/ /pubmed/36964172 http://dx.doi.org/10.1038/s41439-023-00239-8 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
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
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene
title A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene
title_full A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene
title_fullStr A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene
title_full_unstemmed A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene
title_short A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene
title_sort pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the dcn gene
topic Data Report
url 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
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