Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

doi:10.1172/JCI114424

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Article

Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

The Journal of clinical investigation - 1 Jan 1990

Willing M C, Cohn D H, Byers P H

Abstract excerpt

Osteogenesis imperfecta (OI) is a heterogeneous disorder of type I collagen of which OI type I, an autosomal dominant condition, is the mildest and most common form. Affected individuals have blue sclerae, normal stature, bone fragility without significant deformity and osteopenia. Fibroblasts from most affected individuals produce about half the expected amount of structurally normal type I collagen as a result...

Topics

Adult
Alleles
Amino Acid Sequence
Base Sequence
Cells, Cultured
Cloning, Molecular
Collagen
Deoxyribonuclease EcoRI
Female
Genes
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Introns

Macromolecular Substances

Male

Molecular Sequence Data

Mutation

Oligonucleotide Probes

Osteogenesis Imperfecta

Source

Open in PubMed Open full text

Identifiers

PMID: 2295701
DOI: 10.1172/JCI114424
PMCID: PMC296416

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2295701-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.PMID 2295701Read ↗

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.Semantic proximity Read ↗

Molecular heterogeneity in osteogenesis imperfecta type I.Semantic proximity Read ↗

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.Semantic proximity Read ↗

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.Semantic proximity Read ↗

Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix.Semantic proximity Read ↗

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Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure.Semantic proximity Read ↗

A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.Semantic proximity Read ↗

Lack of expression of <i>SERPINF1</i>, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagenSemantic proximity Read ↗

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Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation.Semantic proximity Read ↗

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