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

Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29.

BMC medical genomics - 19 Apr 2024

Wang Ethan Hung-Hsi, Lin Pei-Hsuan, Wu Pei-Liang, Kang Eugene Yu-Chuan, Liu Laura, Yeh Lung-Kun, Chen Kuan-Jen, Hsiao Meng-Chang, Wang Nan-Kai

Abstract excerpt

BACKGROUND: Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion was identified. CASE PRESENTATION: A 40-ye...

Topics

Female
Humans
Adult
Mutation
DNA Copy Number Variations
Intracranial Aneurysm
Optic Atrophy
Phenotype
Chromosomes
Pedigree
GTP Phosphohydrolases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 38641846
DOI: 10.1186/s12920-024-01850-6
PMCID: PMC11031983

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-38641846-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29.PMID 38641846Read ↗

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.Semantic proximity Read ↗

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.Semantic proximity Read ↗

Association of genetic variation on chromosome 9p21 with polypoidal choroidal vasculopathy and neovascular age-related macular degeneration.Semantic proximity Read ↗

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

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

Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins.Semantic proximity Read ↗

Whole-genome copy number variation analysis in anophthalmia and microphthalmia.Semantic proximity Read ↗

Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience.Semantic proximity Read ↗

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

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.Semantic proximity Read ↗

Rare variants in ANO1 , encoding a calcium-activated chloride channel, predispose to moyamoya diseaseSemantic proximity Read ↗

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

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