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

A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.

American journal of ophthalmology - 1 Jan 2007

Chen Suqin, Zhang Yanling, Wang Yiming, Li Weili, Huang Shuang, Chu Xin, Wang Lei, Zhang Mei, Liu Zuguo

Abstract excerpt

PURPOSE: To investigate the genetic findings and phenotypic characters of autosomal dominant optic atrophy (ADOA). DESIGN: Case report and experimental study. METHODS: Molecular genetic analysis and clinical examinations were performed in a Chinese family with ADOA. Mutations in OPA1 were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. RESULTS: Nine...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to DNA Mutational Analysis

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

Share to GTP Phosphohydrolases

Share to Haplotypes

Share to Hearing Loss

Share to Myopia

Share to Optic Atrophy, Autosomal Dominant

Share to Pedigree

Source

Identifiers

PMID: 17188070
DOI: 10.1016/j.ajo.2006.06.049

Genes

OPA1

Variants

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

A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.PMID 17188070Read ↗

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

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.Semantic proximity Read ↗

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

A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy.Semantic proximity Read ↗

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

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.Semantic proximity Read ↗

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.Semantic proximity Read ↗

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

A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.Semantic proximity Read ↗

Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population.Semantic proximity Read ↗

Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy.Semantic proximity Read ↗

A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1.Semantic proximity Read ↗

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