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

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.

Journal of medical genetics - 1 Feb 2009

Fuhrmann N, Alavi M V, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu-Wai-Man P, Chinnery P, Wissinger B

Abstract excerpt

INTRODUCTION: Autosomal dominant optic atrophy (ADOA) is considered as the most common form of hereditary optic neuropathy. Although genetic linkage studies point to the OPA1 locus on chromosome 3q28-q29 as by far the most common gene locus, previous screening studies-based on sequencing of the coding exons-detected OPA1 mutations in only 32-70% of ADOA patients. We therefore hypothesised that larger deletions or...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Genetic Linkage

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

Share to Heterozygote

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 19181907
DOI: 10.1136/jmg.2008.062570

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

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.PMID 19181907Read ↗

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.Semantic proximity Read ↗

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.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 ↗

First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.Semantic proximity Read ↗

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.Semantic proximity Read ↗

Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29.Semantic proximity Read ↗

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.Semantic proximity Read ↗

Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)Semantic proximity Read ↗

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.Semantic proximity Read ↗

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.Semantic proximity Read ↗

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy.Semantic proximity Read ↗

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.Semantic proximity Read ↗

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