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

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.

Ophthalmic genetics - 1 Dec 2019

Gaier Eric D, Sahai Inderneel, Wiggs Janey L, McGeeney Brian, Hoffman Jodi, Peeler Crandall E

Abstract excerpt

Purpose: To describe and distinguish clinical phenotypes with the overlapping feature of optic atrophy caused by distinct mutations in the same gene, OPA3. We report 3 affected siblings in a consanguineous family harboring a novel OPA3 mutation causing 3-methylglutaconic aciduria type III with optic atrophy.Methods: Retrospective case series.Results: Three siblings (2 male, 1 female) among 6 children in a...

Read the complete abstract on PubMed

Topics

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

Share to Chorea
Share to Glutarates
Share to Homozygote

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

Share to Metabolism, Inborn Errors

Share to Optic Atrophy

Share to Proteins

Share to Siblings

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 31928268
DOI: 10.1080/13816810.2019.1711428
PMCID: PMC7050282

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

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.PMID 31928268Read ↗

Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.Semantic proximity Read ↗

Costeff optic atrophy syndrome: new clinical case and novel molecular findings.Semantic proximity Read ↗

Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.Semantic proximity Read ↗

Neuro-Ophthalmic Phenotype of OPA3.Semantic proximity Read ↗

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.Semantic proximity Read ↗

Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.Semantic proximity Read ↗

[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs].Semantic proximity Read ↗

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.Semantic proximity Read ↗

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

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.Semantic proximity Read ↗

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.Semantic proximity Read ↗

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

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