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Article

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.

Human molecular genetics - 1 Sept 1996

Richards A J, Yates J R, Williams R, Payne S J, Pope F M, Scott J D, Snead M P

Abstract excerpt

Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited cause of retinal detachment and one of the commonest autosomal dominant connective tissue dysplasias. There is clinical and locus heterogeneity with about two thirds of families linked to the gene encoding type II pro...

Topics

Collagen
Eye Diseases
Female
Genetic Linkage
Glycine
Humans
Male
Mutation
Pedigree
Valine

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8872475
DOI: 10.1093/hmg/5.9.1339

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8872475-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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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.PMID 8872475Read ↗

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

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

Retinal Detachment in Type IX collagen recessive Stickler syndromeSemantic proximity Read ↗

Dominant Stickler SyndromeSemantic proximity Read ↗

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

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.Semantic proximity Read ↗

Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.Semantic proximity Read ↗

Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.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, ocular-only variants and a key diagnostic role for the ophthalmologist.Semantic proximity Read ↗

Retinal detachment in Type IX collagen recessive Stickler syndrome.Semantic proximity Read ↗

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