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Article

A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.

Human genetics - 1 Aug 1992

Bonaventure J, Cohen-Solal L, Lasselin C, Maroteaux P

Abstract excerpt

Type I collagen chains of a proband from a family with recurrent lethal osteogenesis imperfecta (OI) migrated as a doublet when submitted to gel electrophoresis. Cyanogen bromide (CNBr) peptide mapping demonstrated that the post-translational over-modifications were initiated in alpha 1ICB7. Chemical cleavage of cDNA-RNA heteroduplexes identified a mismatch in the alpha 1I cDNA; this mismatch was subsequently...

Topics

Alleles
Base Sequence
Collagen
Collagen Type I, alpha 1 Chain
Female
Genes, Dominant
Genetic Carrier Screening
Glycine
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mosaicism

Mutation

Nucleic Acid Hybridization

Osteogenesis Imperfecta

Valine

Source

Identifiers

PMID: 1511982
DOI: 10.1007/BF00221955

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1511982-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.PMID 1511982Read ↗

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).Semantic proximity Read ↗

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.Semantic proximity Read ↗

Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1).Semantic proximity Read ↗

Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent.Semantic proximity Read ↗

Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.Semantic proximity Read ↗

Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.Semantic proximity Read ↗

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.Semantic proximity Read ↗

A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.Semantic proximity Read ↗

Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation.Semantic proximity Read ↗

A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta.Semantic proximity Read ↗

Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta.Semantic proximity Read ↗

Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta.Semantic proximity Read ↗

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