Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.

Human mutation - 1 Jan 2026

Zhang Yujun, Liu Huibing, Yin Ailan, Liu Siping, Huang Wanfei, Zhang Yi, Jia Bei

Abstract excerpt

Background: Osteogenesis imperfecta (OI) is a clinical and genetic disorder characterised by bone fragility, growth deficiency and skeletal deformity. Ninety per cent of OI cases are attributable to autosomal dominant variants in the COL1A1 and COL1A2 genes. Methods: Candidate variants were identified and verified through trio whole-exome sequencing (trio-WES), copy number variation sequencing (CNV-seq) and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Collagen Type I
Share to Collagen Type I, alpha 1 Chain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Exome Sequencing

Share to HeLa Cells

Share to Osteogenesis Imperfecta

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 42620875
DOI: 10.1155/humu/2249583
PMCID: PMC13486967

Genes

COL1A1
COL1A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.PMID 42620875Read ↗

Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.Semantic proximity Read ↗

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.Semantic proximity Read ↗

Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I.Semantic proximity Read ↗

Reduced penetrance of <i>COL1A1/2</i> pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohortSemantic proximity Read ↗

Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.Semantic proximity Read ↗

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.Semantic proximity Read ↗

Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.Semantic proximity Read ↗

The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.Semantic proximity Read ↗

Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.Semantic proximity Read ↗

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.Semantic proximity Read ↗

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.Semantic proximity Read ↗

Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.