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.

doi:10.1002/humu.1380010108

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Article

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.

Human mutation - 1 Jan 1992

Edwards M J, Wenstrup R J, Byers P H, Cohn D H

Abstract excerpt

We have determined that a man, ascertained because he fathered a child with lethal osteogenesis imperfecta (OI) with each of two partners, is mosaic in both his germline and somatic tissues for a mutation in the COL1A2 gene which encodes the pro alpha 2(I) chain of type I procollagen. His dermal fibroblasts were previously shown to synthesize a population of cysteine-containing alpha 2(I) chains that were...

Topics

Adult
Amino Acid Sequence
Base Sequence
Cells, Cultured
Collagen
Cysteine
DNA
Female
Fibroblasts
Genes, Lethal
Glycine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Infant, Newborn

Macromolecular Substances

Male

Molecular Sequence Data

Mosaicism

Mutation

Source

Open in PubMed

Identifiers

PMID: 1301191
DOI: 10.1002/humu.1380010108

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1301191-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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