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Article

Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree.

Genetics and molecular research : GMR - 21 Sept 2015

Jin X, Chen Y H, Liu Z, Deng Y, Li N N, Huang H, Qi M, Yi X, Zhu J

Abstract excerpt

Autosomal dominant optic atrophy (ADOA) is an optic neuropathy characterized by bilateral optic nerve pallor and decreased visual acuity. It has been reported to be associated with two genes, OPA1, OPA3, and the OPA4, OPA5, and OPA8 loci. However, mutations in OPA1 constitute the most prevalent c...

Topics

Adult
Asian People
China
DNA Copy Number Variations
Exons
Female
GTP Phosphohydrolases
High-Throughput Nucleotide Sequencing
Humans
Male
Middle Aged
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Optic Atrophy, Autosomal Dominant

Pedigree

Real-Time Polymerase Chain Reaction

Sequence Analysis, DNA

Sequence Deletion

Source

Identifiers

PMID: 26400325
DOI: 10.4238/2015.September.21.8

Genes

OPA1
OPA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-26400325-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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