ArticleJournal of Korean medical science2013
Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.
Article in Journal of Korean medical science, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 23 citations in OpenAlex.
- Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.Odontology · 2025Article
- Molecular and Clinical Aspects of Osteogenesis Imperfecta Type VI: A Case Series with NovelInternational journal of molecular sciences · 2025Article
- Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.European journal of human genetics : EJHG · 2024Article
- Article
- Case Report: A Novel Homozygous Variant of theInternational journal of molecular sciences · 2023Article
- Antagonism Between PEDF and TGF-β Contributes to Type VI Osteogenesis Imperfecta Bone and Vascular Pathogenesis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.Molecular genetics & genomic medicine · 2018Article
- Mutations and altered expression of SERPINF1 in patients with familial otosclerosis.Human molecular genetics · 2016Article
- Osteogenesis imperfecta.Lancet (London, England) · 2016Review
- Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.Molecular syndromology · 2014Article
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Authors and funding
6 authors at 4 institutions in 1 country.
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Abstract
Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in the majority of OI types, but rare recessively inherited genes have also been reported. Recently, SERPINF1 has been reported as another causative gene in OI type VI. To date, only eight SERPINF1 mutations have been reported and all are homozygous. Our patient showed no abnormalities at birth, frequent fractures, osteopenia, and poor response on pamidronate therapy. At the time of her most recent evaluation, she was 8 yr old, and could not walk independently due to frequent lower-extremity fractures, resulting in severe deformity. No clinical signs were seen of hearing impairment, blue sclera, or dentinogenesis imperfecta. In this study, we describe the clinical and radiological findings of one Korean patient with novel compound heterozygous mutations (c.77dupC and c.421dupC) of SERPINF1.
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