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Article

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

Proceedings of the National Academy of Sciences of the United States of America - 1 Aug 1991

Ahmad N N, Ala-Kokko L, Knowlton R G, Jimenez S A, Weaver E J, Maguire J I, Tasman W, Prockop D J

Abstract excerpt

Linkage analysis with restriction fragment length polymorphisms for the gene for type II procollagen (COL2A1) was carried out in a family with the Stickler syndrome, or arthro-ophthalmopathy, an autosomal dominant disorder that affects the eyes, ears, joints, and skeleton. The analysis demonstrated linkage of the disease and COL2A1 with a logarithm-of-odds score of 1.51 at zero recombination. A newly developed...

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Identifiers

PMID: 1677770
DOI: 10.1073/pnas.88.15.6624
PMCID: PMC52140

Genes

CGA

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).PMID 1677770Read ↗

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.Semantic proximity Read ↗

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.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 Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.Semantic proximity Read ↗

Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)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 ↗

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.Semantic proximity Read ↗

Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells.Semantic proximity Read ↗

Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis.Semantic proximity Read ↗

Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanismsSemantic proximity Read ↗

Procollagen II gene mutation in Stickler syndrome.Semantic proximity Read ↗

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

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