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

Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 2009

Ronan Shawn M, Tran-Viet Khanh-Nhat, Burner Erica L, Metlapally Ravikanth, Toth Cynthia A, Young Terri L

Abstract excerpt

OBJECTIVE: To report a 3-generation white family clinically diagnosed variably with Wagner, Stickler, and Jansen syndromes and screened for sequence variants in the COL2A1 and CSPG2 genes. Wagner syndrome is an autosomal dominant vitreoretinopathy with a predisposition to retinal detachment and cataracts. It has significant phenotypic overlap with allelic Jansen syndrome and ocular Stickler syndrome type 1....

Read the complete abstract on PubMed

Topics

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

Share to Base Pairing
Share to Collagen Type II

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

Share to Eye Diseases

Share to Retinal Degeneration

Share to Syndrome

Share to Tomography, Optical Coherence

Share to Vitreous Body

Source

Open in PubMed Open full text

Identifiers

PMID: 19901218
DOI: 10.1001/archophthalmol.2009.273
PMCID: PMC3514888

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

Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.PMID 19901218Read ↗

Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.Semantic proximity Read ↗

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.Semantic proximity Read ↗

Clinical characterisation and molecular analysis of Wagner syndrome.Semantic proximity Read ↗

Identification of the genetic defect in the original Wagner syndrome family.Semantic proximity Read ↗

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.Semantic proximity Read ↗

High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1.Semantic proximity Read ↗

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.Semantic proximity Read ↗

A family with Wagner syndrome with uveitis and a new versican mutation.Semantic proximity Read ↗

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.Semantic proximity Read ↗

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.Semantic proximity Read ↗

Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.Semantic proximity Read ↗

Multimodal Evaluation and Management of Wagner Syndrome-Three Patients from an Affected Family.Semantic proximity Read ↗

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