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...

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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
Descripción
Sumario: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.

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