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

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.

• Authors: Kazuki Yamazawa, Kenji Shimizu, Hirofumi Ohashi, Hidenori Haruna, Satomi Inoue, Haruka Murakami, Tatsuo Matsunaga, Takeshi Iwata, Kazushige Tsunoda, Kaoru Fujinami
• Journal: Human genome variation (Hum Genome Var) Vol. 8 Issue 1 Pg. 46 (Dec 17 2021) ISSN: 2054-345X [Print] England
• PMID: 34921139 (Publication Type: Journal Article)
• Copyright: © 2021. The Author(s).