A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder.
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
17 Dec 2021
17 Dec 2021
Historique:
received:
29
09
2021
accepted:
21
11
2021
revised:
16
11
2021
entrez:
18
12
2021
pubmed:
19
12
2021
medline:
19
12
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34921139
doi: 10.1038/s41439-021-00178-2
pii: 10.1038/s41439-021-00178-2
pmc: PMC8683409
doi:
Types de publication
Journal Article
Langues
eng
Pagination
46Informations de copyright
© 2021. The Author(s).
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