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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 c...

Topics

Base Sequence
Color Vision
DNA Mutational Analysis
Exons
GTP Phosphohydrolases
Gene Deletion
Gene Rearrangement
Genetic Linkage
Genome, Human
Heterozygote
Humans
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Optic Atrophy, Autosomal Dominant

Pedigree

Phenotype

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 30 Aug 2026. Prepared record publication-19181907-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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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 ↗

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