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

Kazuki Yamazawa; Kenji Shimizu; Hirofumi Ohashi; Hidenori Haruna; Satomi Inoue; Haruka Murakami; Tatsuo Matsunaga; Takeshi Iwata; Kazushige Tsunoda; Kaoru Fujinami

doi:10.1038/s41439-021-00178-2

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

Hum Genome Var. 2021 Dec 17;8(1):46. doi: 10.1038/s41439-021-00178-2.

Authors

Kazuki Yamazawa^{1

2}, Kenji Shimizu^{3

4}, Hirofumi Ohashi³, Hidenori Haruna⁵, Satomi Inoue⁶, Haruka Murakami⁶, Tatsuo Matsunaga^{6

7}, Takeshi Iwata⁸, Kazushige Tsunoda⁹, Kaoru Fujinami^{10

11

12}

Affiliations

¹ Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. kyamazawa@keio.jp.
² Department of Pediatrics, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. kyamazawa@keio.jp.
³ Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
⁴ Division of Medical Genetics and Cytogenetics, Shizuoka Children's Hospital, Shizuoka, Japan.
⁵ Department of Pediatrics and Adolescent Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan.
⁶ Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
⁷ Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
⁸ Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
⁹ Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
¹⁰ Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. k.fujinami@ucl.ac.uk.
¹¹ Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. k.fujinami@ucl.ac.uk.
¹² UCL Institute of Ophthalmology, University College London, London, United Kingdom. k.fujinami@ucl.ac.uk.

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.