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Article

An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.

Connective tissue research - 1 Jan 1993

Superti-Furga A, Raghunath M, Pistone F M, Romano C, Steinmann B

Abstract excerpt

A mild form of osteogenesis imperfecta was diagnosed in a 5-year-old boy with short stature, osteoporosis, blueish sclerae, dentinogenesis imperfecta, hyperextensible joints and bruisable skin. His skin fibroblasts synthesized both normal and shortened pro-alpha 2(I) collagen chains. Procollagen...

Topics

Alleles
Base Sequence
Biopsy
Child, Preschool
Collagen
DNA
Exons
Fibroblasts
Gene Deletion
Genes
Humans
Introns
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Osteogenesis Imperfecta

Polymerase Chain Reaction

RNA, Messenger

Skin

Source

Identifiers

PMID: 8339544
DOI: 10.3109/03008209309061964

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8339544-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.PMID 8339544Read ↗

Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.Semantic proximity Read ↗

Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta.Semantic proximity Read ↗

A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.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 ↗

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 ↗

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.Semantic proximity Read ↗

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

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.Semantic proximity Read ↗

Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability.Semantic proximity Read ↗

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.Semantic proximity Read ↗

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