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Article

Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.

American journal of human genetics - 3 Oct 2024

Iglesias-Romero Ana Belén, Kaminska Karolina, Quinodoz Mathieu, Folcher Marc, Lin Siying, Arno Gavin, Calado Joaquim, Webster Andrew R, Moulin Alexandre, Sousa Ana Berta, Coutinho-Santos Luisa, Santos Cristina, Rivolta Carlo

Abstract excerpt

Retinitis pigmentosa (RP) is a Mendelian disease characterized by gradual loss of vision, due to the progressive degeneration of retinal cells. Genetically, it is highly heterogeneous, with pathogenic variants identified in more than 100 genes so far. Following a large-scale sequencing screening, we identified five individuals (four families) with recessive and non-syndromic RP, carrying as well bi-allelic DNA...

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Identifiers

PMID: 39226897
DOI: 10.1016/j.ajhg.2024.08.005
PMCID: PMC11480794

Genes

COQ8B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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