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Article

Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.

Genes - 24 Apr 2024

de Muijnck Cansu, Brink Jacoline B Ten, de Haan Hugoline G, Rodenburg Richard J, Wolf Nicole I, Bergen Arthur A, Boon Camiel J F, van Genderen Maria M

Abstract excerpt

Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next-generation sequencing panels has a diagnostic yield of about forty percent. In the other 60% of the patients with a clinical diagnosis of ION, the underlying genetic variants remain unknown. In this case study, we describe a...

Topics

Adult
Child
Female
Humans
Methyltransferases
Mitochondria
Mutation
Optic Nerve Diseases
Pedigree

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38790159
DOI: 10.3390/genes15050530
PMCID: PMC11121614

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-38790159-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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