A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder

2p15p16.1 microdeletion syndrome is a recently recognized congenital disorder characterized by developmental delay and dysmorphic features. RP2-associated retinal disorder (RP2-RD) is an X-linked inherited retinal disease with a childhood onset caused by a loss-of-function variant in the RP2 gene. H...

Descripción completa

Detalles Bibliográficos
Autores principales: Yamazawa, Kazuki, Shimizu, Kenji, Ohashi, Hirofumi, Haruna, Hidenori, Inoue, Satomi, Murakami, Haruka, Matsunaga, Tatsuo, Iwata, Takeshi, Tsunoda, Kazushige, Fujinami, Kaoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683409/
https://www.ncbi.nlm.nih.gov/pubmed/34921139
http://dx.doi.org/10.1038/s41439-021-00178-2
_version_ 1784617411978199040
author Yamazawa, Kazuki
Shimizu, Kenji
Ohashi, Hirofumi
Haruna, Hidenori
Inoue, Satomi
Murakami, Haruka
Matsunaga, Tatsuo
Iwata, Takeshi
Tsunoda, Kazushige
Fujinami, Kaoru
author_facet Yamazawa, Kazuki
Shimizu, Kenji
Ohashi, Hirofumi
Haruna, Hidenori
Inoue, Satomi
Murakami, Haruka
Matsunaga, Tatsuo
Iwata, Takeshi
Tsunoda, Kazushige
Fujinami, Kaoru
author_sort Yamazawa, Kazuki
collection PubMed
description 2p15p16.1 microdeletion syndrome is a recently recognized congenital disorder characterized by developmental delay and dysmorphic features. RP2-associated retinal disorder (RP2-RD) is an X-linked inherited retinal disease with a childhood onset caused by a loss-of-function variant in the RP2 gene. Here, we describe a 14-year-old boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-RD. The recurrence risk of each condition and the indication for potential therapeutic options for RP2-RD are discussed.
format Online
Article
Text
id pubmed-8683409
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-86834092022-01-04 A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder Yamazawa, Kazuki Shimizu, Kenji Ohashi, Hirofumi Haruna, Hidenori Inoue, Satomi Murakami, Haruka Matsunaga, Tatsuo Iwata, Takeshi Tsunoda, Kazushige Fujinami, Kaoru Hum Genome Var Data Report 2p15p16.1 microdeletion syndrome is a recently recognized congenital disorder characterized by developmental delay and dysmorphic features. RP2-associated retinal disorder (RP2-RD) is an X-linked inherited retinal disease with a childhood onset caused by a loss-of-function variant in the RP2 gene. Here, we describe a 14-year-old boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-RD. The recurrence risk of each condition and the indication for potential therapeutic options for RP2-RD are discussed. Nature Publishing Group UK 2021-12-17 /pmc/articles/PMC8683409/ /pubmed/34921139 http://dx.doi.org/10.1038/s41439-021-00178-2 Text en © The Author(s) 2021 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
Yamazawa, Kazuki
Shimizu, Kenji
Ohashi, Hirofumi
Haruna, Hidenori
Inoue, Satomi
Murakami, Haruka
Matsunaga, Tatsuo
Iwata, Takeshi
Tsunoda, Kazushige
Fujinami, Kaoru
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
title A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
title_full A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
title_fullStr A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
title_full_unstemmed A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
title_short A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
title_sort japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and rp2-associated retinal disorder
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683409/
https://www.ncbi.nlm.nih.gov/pubmed/34921139
http://dx.doi.org/10.1038/s41439-021-00178-2
work_keys_str_mv AT yamazawakazuki ajapaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT shimizukenji ajapaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT ohashihirofumi ajapaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT harunahidenori ajapaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT inouesatomi ajapaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT murakamiharuka ajapaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT matsunagatatsuo ajapaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT iwatatakeshi ajapaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT tsunodakazushige ajapaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT fujinamikaoru ajapaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT yamazawakazuki japaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT shimizukenji japaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT ohashihirofumi japaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT harunahidenori japaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT inouesatomi japaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT murakamiharuka japaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT matsunagatatsuo japaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT iwatatakeshi japaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT tsunodakazushige japaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder
AT fujinamikaoru japaneseboywithdoublediagnosesof2p15p161microdeletionsyndromeandrp2associatedretinaldisorder

Ejemplares similares