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Article

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

The Journal of pediatrics - 1 Feb 1998

Sirko-Osadsa D A, Murray M A, Scott J A, Lavery M A, Warman M L, Robin N H

Abstract excerpt

Eye involvement has been considered a principal component feature in Stickler syndrome. However, families lacking eye involvement have been reported. We describe such a family and show that their phenotype is due to a heterozygous 27 basepair deletion in the gene COL11A2, which encodes the alpha2(XI) chain of type XI collagen. This is the second family in whom a COL11A2 mutation has been found to cause Stickler...

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Identifiers

PMID: 9506662
DOI: 10.1016/s0022-3476(98)70466-4

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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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Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.PMID 9506662Read ↗

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Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.Semantic proximity Read ↗

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

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

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