Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).

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Article

Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).

American journal of human genetics - 1 Oct 1990

Constantinou C D, Pack M, Young S B, Prockop D J

Abstract excerpt

A proband with a lethal variant of osteogenesis imperfecta (OI) has been shown to have, in one allele in a gene for type I procollagen (COL1A1), a single base mutation that converted the codon for alpha 1-glycine 904 to a codon for cysteine. The mutation caused the synthesis of type I procollagen that was posttranslationally overmodified, secreted at a decreased rate, and had a decreased thermal stability. The...

Topics

Alleles
Base Sequence
Blotting, Southern
Cysteine
DNA
DNA Mutational Analysis
Female
Fetal Death
Fibroblasts
Genes, Lethal
Glycine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Leukocyte Count

Male

Molecular Sequence Data

Mosaicism

Mutation

Osteogenesis Imperfecta

Source

Open in PubMed Open full text

Identifiers

PMID: 2220807
PMCID: PMC1683788

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2220807-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).PMID 2220807Read ↗

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

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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 ↗

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

Somatic cell mosaicism: another source of phenotypic heterogeneity in nuclear families with osteogenesis imperfecta.Semantic proximity Read ↗

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

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

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

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II.Semantic proximity Read ↗

Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.Semantic proximity Read ↗

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