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Article

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

3 May 1996

Abstract excerpt

We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and brachydactyly E-like changes. This condition has been described as spondyloperipheral dysplasia and the few published cases suggest autosomal dominant inheritance with considerable clinical variability. We found our sporadic case to be due to a collagen type II defect resulting from a specific...

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Identifiers

PMID: 8723097
DOI: 10.1002/(sici)1096-8628(19960503)63:1<123::aid-ajmg22>3.0.co;2-p

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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

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaPMID 8723097Read ↗

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.Semantic proximity Read ↗

Spondyloperipheral dysplasia is caused by truncating mutations in the C‐propeptide of COL2A1Semantic proximity Read ↗

Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.Semantic proximity Read ↗

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.Semantic proximity Read ↗

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.Semantic proximity Read ↗

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.Semantic proximity Read ↗

Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).Semantic proximity Read ↗

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Semantic proximity Read ↗

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.Semantic proximity Read ↗

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.Semantic proximity Read ↗

COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.Semantic proximity Read ↗

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.Semantic proximity Read ↗

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