The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele.

doi:10.1007/BF02265286

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Article

The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele.

Human genetics - 1 Mar 1992

Nicholls A C, Oliver J, Renouf D V, Heath D A, Pope F M

Abstract excerpt

We have investigated a family with an autosomal dominantly inherited connective-tissue defect causing extreme joint hypermobility, premature osteoporosis and late-onset fractures. Analysis of collagenous proteins from affected individuals showed a deletion in some alpha 2(I) chains. Peptide mapping localized this to the CB peptide alpha 2CB4, which covers the N-terminal one-third of the protein chain. Polymerase...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Cells, Cultured
Chromosome Deletion
Collagen
DNA
Electrophoresis, Agar Gel
Electrophoresis, Polyacrylamide Gel
Female
Fractures, Bone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Joint Instability

Male

Molecular Sequence Data

Osteogenesis Imperfecta

Osteoporosis

Pedigree

Source

Open in PubMed

Identifiers

PMID: 1551666
DOI: 10.1007/BF02265286

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1551666-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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