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Article

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.

Human molecular genetics - 1 Sept 1994

Brunner H G, van Beersum S E, Warman M L, Olsen B R, Ropers H H, Mariman E C

Abstract excerpt

Stickler syndrome (hereditary arthro-ophthalmopathy) is caused by mutations in the structural gene for collagen type II (COL2A1) in approximately 50% of cases. In the other families with this syndrome, the genetic defect is unknown. We have performed linkage analysis in a large Dutch kindred with a Stickler syndrome phenotype that was unlinked to COL2A1. As an initial strategy, we tested polymorphisms that are...

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Source

Identifiers

PMID: 7833911
DOI: 10.1093/hmg/3.9.1561

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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.

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A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.PMID 7833911Read ↗

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 ↗

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

Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.Semantic proximity Read ↗

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.Semantic proximity Read ↗

Stickler syndrome type 2 and linkage to the COL11A1 gene.Semantic proximity Read ↗

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.Semantic proximity Read ↗

Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.Semantic proximity Read ↗

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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 ↗

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A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.Semantic proximity Read ↗

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