Retinitis pigmentosa‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation

Autor:	Mostafa Neissi, Motahareh Sheikh‐Hosseini, Javad Mohammadi‐Asl
Jazyk:	angličtina
Rok vydání:	2024
Předmět:	exome‐sequencing mutation retinitis pigmentosa RP1 gene Medicine Medicine (General) R5-920
Zdroj:	Clinical Case Reports, Vol 12, Iss 3, Pp n/a-n/a (2024)
Druh dokumentu:	article
ISSN:	2050-0904
DOI:	10.1002/ccr3.8666
Popis:	Key Clinical Message The identification of a novel RP1 gene mutation highlights the importance of precise variant identification for retinitis pigmentosa prognosis and genetic consultations, emphasizing comprehensive genetic analysis for personalized care. Abstract Our study unveils a noteworthy association between retinitis pigmentosa‐1 and a newly discovered homozygous mutation (c.5326delC; p.Asp1777Ilefs*32) within the RP1 gene. This highlights the crucial role of accurate variant identification in not only informing prognosis but also improving genetic consultations and influencing future diagnostic approaches for individuals affected by retinitis pigmentosa.
Databáze:	Directory of Open Access Journals
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