Abstract

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.

Details

Title
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
Author
Yamazawa Kazuki 1   VIAFID ORCID Logo  ; Shimizu Kenji 2   VIAFID ORCID Logo  ; Ohashi Hirofumi 3 ; Haruna Hidenori 4 ; Inoue Satomi 5 ; Murakami Haruka 5 ; Matsunaga Tatsuo 6   VIAFID ORCID Logo  ; Iwata Takeshi 7 ; Tsunoda Kazushige 8 ; Fujinami Kaoru 9 

1  National Hospital Organization Tokyo Medical Center, Medical Genetics Center, Tokyo, Japan (GRID:grid.416239.b); National Hospital Organization Tokyo Medical Center, Department of Pediatrics, Tokyo, Japan (GRID:grid.416239.b) 
2  Saitama Children’s Medical Center, Division of Medical Genetics, Saitama, Japan (GRID:grid.416697.b) (ISNI:0000 0004 0569 8102); Shizuoka Children’s Hospital, Division of Medical Genetics and Cytogenetics, Shizuoka, Japan (GRID:grid.415798.6) (ISNI:0000 0004 0378 1551) 
3  Saitama Children’s Medical Center, Division of Medical Genetics, Saitama, Japan (GRID:grid.416697.b) (ISNI:0000 0004 0569 8102) 
4  Juntendo University Faculty of Medicine, Department of Pediatrics and Adolescent Medicine, Tokyo, Japan (GRID:grid.258269.2) (ISNI:0000 0004 1762 2738) 
5  National Hospital Organization Tokyo Medical Center, Medical Genetics Center, Tokyo, Japan (GRID:grid.416239.b) 
6  National Hospital Organization Tokyo Medical Center, Medical Genetics Center, Tokyo, Japan (GRID:grid.416239.b); National Hospital Organization Tokyo Medical Center, Division of Hearing and Balance Research, National Institute of Sensory Organs, Tokyo, Japan (GRID:grid.416239.b) 
7  National Hospital Organization Tokyo Medical Center, Division of Molecular and Cellular Biology, National Institute of Sensory Organs, Tokyo, Japan (GRID:grid.416239.b) 
8  National Hospital Organization Tokyo Medical Center, Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, Tokyo, Japan (GRID:grid.416239.b) 
9  National Hospital Organization Tokyo Medical Center, Medical Genetics Center, Tokyo, Japan (GRID:grid.416239.b); National Hospital Organization Tokyo Medical Center, Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, Tokyo, Japan (GRID:grid.416239.b); University College London, UCL Institute of Ophthalmology, London, United Kingdom (GRID:grid.83440.3b) (ISNI:0000000121901201) 
Publication year
2021
Publication date
2021
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-021-00178-2
ProQuest document ID
2611009345
Copyright
© The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.