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Article

RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women.

Human genetics - 13 Feb 2026

Fabard Manon, Devos Aurore, Poncet Anaïs F, Meneboo Jean-Pascal, Figeac Martin, Villenet Céline, Drumare Isabelle, Defoort-Dhellemmes Sabine, Meunier Isabelle, Zanlonghi Xavier, Grunewald Olivier, Huin Vincent, Lecigne Claire, Smirnov Vasily, Dhaenens Claire-Marie

Abstract excerpt

RPGR (Retinitis Pigmentosa GTPase Regulator) is the main gene involved in X-linked retinitis pigmentosa (RP) and up to 28% of sporadic RP. Pathogenic variants are mostly located in its retina-specific transcript, RPGRorf15, especially in the terminal exon named open reading frame 15 (ORF15), which is a highly repeated region. Because of this complex sequence, first- and second-generation short-read sequencing are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41686256
DOI: 10.1007/s00439-025-02807-0
PMCID: PMC12904915

Genes

RP2
RPGR

Provenance

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

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RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women.PMID 41686256Read ↗

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