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Article

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy.

Clinical genetics - 1 Aug 2026

Volk Marija, Maver Aleš, Vidmar Martina Jarc, Trošt Nuša, Višnjar Tanja, Fakin Ana, Kovač Lea, Habjan Maja Šuštar, Malinar Lucija, Pajić Sanja Petrović, Jerman Urška Dragin, Romih Rok, Hawlina Marko, Peterlin Borut

Abstract excerpt

Hereditary optic neuropathies comprise a genetically heterogeneous group of disorders caused by pathogenic variants in mitochondrial and nuclear genes. Despite increasing diagnostic yields, many patients remain without a molecular diagnosis. We report a novel candidate heterozygous variant in the PHB1 (Prohibitin 1) gene in a large family affected by autosomal dominant optic atrophy. A three-generation family...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Share to Optic Atrophy, Autosomal Dominant

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Source

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Identifiers

PMID: 42067999
DOI: 10.1111/cge.70174
PMCID: PMC13327145

Genes

PHB1
OPA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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