ArticleFrontiers in surgery2022
COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report.
Article in Frontiers in surgery, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 4 citations in OpenAlex.
- Phenotypic Variability and Diagnostic Characteristics of Pediatric Osteogenesis Imperfecta: A 10-Year Multicenter Cohort Study from Three Tertiary Pediatric Hospitals in Bucharest, Romania.Diagnostics (Basel, Switzerland) · 2026Article
- Article
- Characteristics of brittle cornea syndrome by multimodal imaging modalities: a case report.BMC ophthalmology · 2023Article
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Authors and funding
3 authors at 1 institution in 1 country.
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Abstract
Background: Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomal dominant with variants in the COL1A1 and COL1A2 genes. It is characterized by bone fragility and deformity, recurrent fractures, blue sclera, dentinogenesis imperfecta, short stature, and progressive deafness. Case presentation: We present a novel splicing mutation in the COL1A1 gene (c.2398-1G > C) in a 6-year-old Ecuadorian girl with fractures after light pressure and blue sclera. We identified the pathogenic variant, performed a literature review of splice variants, and recognized their location in the COL1A1 functional domains. Conclusion: We describe the first clinical description of a patient with OI type 1 caused by a splice variant in intron 34 of COL1A1 gene and identify that most of them are localized in the triple-helical region domain. We suggest that the splice variant in signal peptide, von Willebrand factor type C, and nonhelical regions maintain their functionality or that individuals affected with severe cases die early in development and are not reported.
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