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Article

Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2025

Bianco Lorenzo, Navarro Julien, Michiels Christelle, Sangermano Riccardo, Condroyer Christel, Antonio Aline, Antropoli Alessio, Andrieu Camille, Place Emily M, Pierce Eric A, El Shamieh Said, Smirnov Vasily, Kalatzis Vasiliki, Mansard Luke, Roux Anne-Françoise, Bocquet Béatrice, Sahel José-Alain, Meunier Isabelle, Bujakowska Kinga M, Audo Isabelle, Zeitz Christina

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous group of retinal degenerative disorders characterized by the loss of rod and cone photoreceptors, leading to visual impairment and blindness. To date, to our knowledge, X-linked RP has been associated with variants in 3 genes (RPGR, RP2, and OFD1), whereas genetic defects at 3 loci (RP6, RP24, and RP34) are yet unidentified. The aim of this study...

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Source

Identifiers

PMID: 40119724
DOI: 10.1016/j.gim.2025.101418

Genes

IDH3G
IDH3A
IDH3B
RP2
RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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