Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Jun 2026

Jia Yiran, Huang Zhiqin, Chen Chunli, Chen Fred K, Jiang Libin

Abstract excerpt

BACKGROUND: C12orf65 (chromosome 12 open reading frame 65) gene encodes a mitochondrial matrix protein essential for the release of newly synthesized proteins from mitochondrial ribosomes. Biallelic pathogenic variants result in loss of function in the protein complex necessary for oxidative phos...

Topics

Humans
Male
Pedigree
Mutation
Female
Mitochondrial Proteins
Child
Retrospective Studies
Child, Preschool
China
Adolescent
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

DNA Mutational Analysis

Optic Atrophy

East Asian People

Peptide Termination Factors

Source

Identifiers

PMID: 40993840
DOI: 10.1097/WNO.0000000000002378

Genes

OPA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-40993840-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.PMID 40993840Read ↗

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.Semantic proximity Read ↗

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.Semantic proximity Read ↗

[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].Semantic proximity Read ↗

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.Semantic proximity Read ↗

Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.Semantic proximity Read ↗

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).Semantic proximity Read ↗

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.Semantic proximity Read ↗

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.Semantic proximity Read ↗

Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A ReviewSemantic proximity Read ↗

Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.Semantic proximity Read ↗

Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.Semantic proximity Read ↗

Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.