ArticleJournal of bone and mineral metabolism2020
Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta.
Article in Journal of bone and mineral metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Identification and functional characterization of a novel pathogenicFrontiers in genetics · 2026Article
- Plasminogen Activator Inhibitor 1 Controls Abdominal Aortic Aneurism Formation via the Modulation of TGF-β/Smad2/3 Signaling in Mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Haplotype and Presence-Absence Variation Analysis Using High-Resolution Melting (HRM) Analysis for Genotyping Genes of Interest.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.PloS one · 2023Article
- Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.Frontiers in endocrinology · 2023Article
- Prenatal Cases Reflect the Complexity of theGenes · 2022Article
- COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report.Frontiers in surgery · 2022Article
- The diagnostic protocol for hereditary spherocytosis-2021 update.Journal of clinical laboratory analysis · 2021Review
- Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2020Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
High-resolution melting (HRM) analysis has been shown to be a time-saving method for the screening of genetic variants. To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore COL1A1/COL1A2 mutations in 87 Chinese OI patients and to perform population-based studies of the relationships between their genotypes and phenotypes. Peripheral blood samples were collected from the 87 non-consanguineous probands. The coding regions and exon boundaries of COL1A1/COL1A2 were detected by HRM and confirmed by Sanger sequencing. The functional effects of mutations were predicted through bioinformatic tools. Mutations were detected in 70.3% of familial cases and 40% of sporadic cases (p < 0.01). Compared with COL1A1 mutations, patients with COL1A2 mutations were more prone to severe phenotypes. Helical mutations (caused by substitution of the glycine within the Gly-X-Y triplet domain) were more likely to occur in patients with type III and IV (p < 0.05). Haploinsufficiency mutations (caused by frameshift, nonsense, and splice-site mutations) appeared more frequently in patients with type I (p < 0.05). Compared with the Sanger sequencing and whole exome sequencing (WES), HRM was found to reduce total costs by 78%- 80% in patients who had a positive HRM separate melting curve. Our findings suggest that HRM would greatly benefit small and understaffed hospitals and laboratories, and would facilitate the accurate diagnosis and early treatment of OI in remote and less developed regions.
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