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)

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Article

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)

American journal of human genetics - 1 Jul 1993

Körkkö J, Ritvaniemi P, Haataja L, Kääriäinen H, Kivirikko K I, Prockop D J, Ala-Kokko L

Abstract excerpt

A search for mutations in the gene for type II procollagen (COL2A1) was carried out in affected members of a family with early-onset cataracts, lattice degeneration of the retina, and retinal detachment. They had no symptoms suggestive of involvement of nonocular tissues, as is typically found in...

Topics

Adolescent
Adult
Amino Acid Sequence
Aspartic Acid
Base Sequence
Cataract
Child
Child, Preschool
DNA
DNA Mutational Analysis
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Glycine

Humans

Joint Diseases

Male

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 8317498
PMCID: PMC1682228

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8317498-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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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)PMID 8317498Read ↗

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

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

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.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 ↗

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

Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.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 ↗

Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.Semantic proximity Read ↗

Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.Semantic proximity Read ↗

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

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

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