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Article

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

European journal of human genetics : EJHG - 1 Jan 2025

Vaché Christel, Faugère Valérie, Baux David, Mansard Luke, Van Goethem Charles, Dhaenens Claire-Marie, Grunewald Olivier, Audo Isabelle, Zeitz Christina, Meunier Isabelle, Bocquet Béatrice, Cossée Mireille, Bergougnoux Anne, Kalatzis Vasiliki, Roux Anne-Françoise

Abstract excerpt

X-linked retinitis pigmentosa (XLRP) is characterized by progressive vision loss leading to legal blindness in males and a broad severity spectrum in carrier females. Pathogenic alterations of the retinitis pigmentosa GTPase regulator gene (RPGR) are responsible for over 70% of XLRP cases. In the retina, the RPGRORF15 transcript includes a terminal exon, called ORF15, that is altered in the large majority of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38969740
DOI: 10.1038/s41431-024-01649-0
PMCID: PMC11711185

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.PMID 38969740Read ↗

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Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.Semantic proximity Read ↗

De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.Semantic proximity Read ↗

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