Discover Community Create You

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

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Molecular medicine reports - 1 Jul 2016

Lee Jinho, Jung Sung-Chul, Hong Young Bin, Yoo Jeong Hyun, Koo Heasoo, Lee Ja Hyun, Hong Hyun Dae, Kim Sang-Beom, Chung Ki Wha, Choi Byung-Ok

Abstract excerpt

Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutations, suggestive of either recessive or semi‑dominant patterns of inheritance. The majority of these patients were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ataxia
Share to Cataract

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to GTP Phosphohydrolases

Share to Hearing Loss

Share to Optic Atrophy

Share to Optic Atrophy, Autosomal Dominant

Source

Open in PubMed Open full text

Identifiers

PMID: 27150940
DOI: 10.3892/mmr.2016.5209
PMCID: PMC4918608

Genes

OPA1

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.PMID 27150940Read ↗

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.Semantic proximity Read ↗

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.Semantic proximity Read ↗

Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.Semantic proximity Read ↗

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.Semantic proximity Read ↗

Multi-system neurological disease is common in patients with OPA1 mutations.Semantic proximity Read ↗

OPA1 analysis in an international series of probands with bilateral optic atrophy.Semantic proximity Read ↗

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

Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.Semantic proximity Read ↗

[A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers].Semantic proximity Read ↗

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.Semantic proximity Read ↗

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.Semantic proximity Read ↗

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.Semantic proximity Read ↗

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