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

doi:10.1073/pnas.88.15.6624

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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 demonstrat...

Topics

Base Sequence
Bone Diseases
Cloning, Molecular
Codon
Cosmids
DNA
Exons
Eye Diseases
Female
Genes
Genetic Linkage
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Joint Diseases

Male

Molecular Sequence Data

Mutation

Oligonucleotide Probes

Pedigree

Source

Open in PubMed Open full text

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1677770-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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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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