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- W2358078412 abstract "Objective:Osteogenesis imperfecta(OI),also known as brittle bone disease,is a rare heterogeneous group of inherited disorders characterized by low bone mass,increased bone fragility,blue sclera and dentinogenesis imperfecta,with an estimated incidence of 1 ∶ 10 000 worldwide. To report a Chinese family with osteogenesis imperfecta (OI) and detect mutation in type Ⅰ collagen gene,COL1A1 and COL1A2. Methods:Two cases,both with abnormal fragility of the skeleton and blue sclera,were diagnosed as OI. Genomic DNA was extracted from blood samples and all promoters,exons and exon/intron boundaries of COL1A1 and COL1A2 genes were sequenced. Polymerase chain reaction sequence-specific primers (PCR-SSP) was used to confirm patients' heterozygous state. Results:Direct DNA sequencing analysis of COL1A1 gene revealed a splicing mutation (c.1875+1GA,also as IVS 27+1 GA) that converted the 5' end of intron 27 from GT to AT. This mutation was found in both 2 affected individuals but 9 unaffected relatives and the 50 controls were not observed,which was consistent with the clinical diagnosis. This mutation (c.1875+1GA) appeared to be novel,which was neither reported in literatures nor registered in the Database of Collagen Mutations. The heterozygous states of patients'intron 27 were confirmed by PCR-SSP. Conclusion:We identify a novel RNA-splicing mutation (c.1875+1GA) in COL1A1 gene resulting in OI in a Chinese family. The detailed molecular and clinical features will be useful for extending the evidence for genetic and phenotypic heterogeneity in OI and exploring the phenotype-genotype correlations in OI." @default.
- W2358078412 created "2016-06-24" @default.
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- W2358078412 date "2009-01-01" @default.
- W2358078412 modified "2023-09-23" @default.
- W2358078412 title "A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta typeIin a Chinese family" @default.
- W2358078412 hasPublicationYear "2009" @default.
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