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Article

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.

Molecular vision - 1 Jan 2013

Tran-Viet Khanh-Nhat, Soler Vincent, Quiette Valencia, Powell Caldwell, Yanovitch Tammy, Metlapally Ravikanth, Luo Xiaoyan, Katsanis Nicholas, Nading Erica, Young Terri L

Abstract excerpt

PURPOSE: Stickler syndrome is an arthro-ophthalmopathy with phenotypic overlap with Wagner syndrome. The common Stickler syndrome type I is inherited as an autosomal dominant trait, with causal mutations in collagen type II alpha 1 (COL2A1). Wagner syndrome is associated with mutations in versican (VCAN), which encodes for a chondroitin sulfate proteoglycan. A three-generation Caucasian family variably diagnosed...

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Source

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Identifiers

PMID: 23592912
PMCID: PMC3626300

Genes

VCAN

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

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Research trail→

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Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.PMID 23592912Read ↗

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 ↗

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 ↗

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

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.Semantic proximity Read ↗

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.Semantic proximity Read ↗

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

A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.Semantic proximity Read ↗

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.Semantic proximity Read ↗

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Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.Semantic proximity Read ↗

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

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